• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), transcript variant 2, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu21635 Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand $2699.00 30
OHu21635C Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), transcript variant 2, mRNA. Customized vector On-demand $2699.00 30

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Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_000352.4, 562815398
Length 4746 bp
Structure linear
Update Date 05-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), transcript variant 2, mRNA.
Product ATP-binding cassette sub-family C member 8 isoform 2
Comment

Summary: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013].


Transcript Variant: This variant (2) uses an alternate in-frame acceptor splice site at an internal coding exon compared to variant 1. The resulting isoform (2) is 1 aa shorter than isoform 1.

RefSeq NP_000343.2
CDS 70..4815
Misc Feature(1)172..234
Misc Feature(2)172..234
Misc Feature(3)295..357
Misc Feature(4)373..435
Misc Feature(5)472..531
Misc Feature(6)571..651
Misc Feature(7)736..4812
Misc Feature(8)1003..1062
Misc Feature(9)1021..1839
Misc Feature(10)1135..1197
Misc Feature(11)1372..1434
Misc Feature(12)1444..1506
Misc Feature(13)1693..1755
Misc Feature(14)1822..1884
Misc Feature(15)2104..2787
Misc Feature(16)2206..2229
Misc Feature(17)order(2215..2220,2224..2232,2389..2391,2626..2631,
Misc Feature(18)2380..2391
Misc Feature(19)2554..2583
Misc Feature(20)2614..2631
Misc Feature(21)2638..2649
Misc Feature(22)2719..2739
Misc Feature(23)3082..3144
Misc Feature(24)3103..3951
Misc Feature(25)3286..3348
Misc Feature(26)3481..3543
Misc Feature(27)3547..3609
Misc Feature(28)3823..3885
Misc Feature(29)3898..3960
Misc Feature(30)4093..4812
Misc Feature(31)4201..4224
Misc Feature(32)order(4210..4215,4219..4227,4345..4347,4582..4587,
Misc Feature(33)4336..4347
Misc Feature(34)4510..4539
Misc Feature(35)4570..4587
Misc Feature(36)4594..4605
Misc Feature(37)4675..4695
Exon (1)1..217
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (2)218..359
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (3)360..481
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (4)482..648
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (5)649..891
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (6)892..1080
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (7)1081..1245
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (8)1246..1401
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (9)1402..1536
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (10)1537..1699
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (11)1700..1740
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (12)1741..1886
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (13)1887..1992
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (14)1993..2109
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (15)2110..2185
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (16)2186..2291
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (17)2292..2324
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (18)2325..2360
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (19)2361..2459
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (20)2460..2544
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (21)2545..2625
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (22)2626..2763
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (23)2764..2889
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (24)2890..2989
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (25)2990..3231
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (26)3232..3398
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (27)3399..3468
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (28)3469..3626
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (29)3627..3719
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (30)3720..3822
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (31)3823..3936
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (32)3937..4057
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (33)4058..4188
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (34)4189..4267
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (35)4268..4376
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (36)4377..4480
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (37)4481..4614
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (38)4615..4677
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Exon (39)4678..4921
Gene:ABCC8
Gene Synonym:ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Translation MPLAFCGSENHSAAYRVDQGVLNNGCFVDALNVVPHVFLLFITFPILFIGWGSQSSKVHI HHSTWLHFPGHNLRWILTFMLLFVLVCEIAEGILSDGVTESHHLHLYMPAGMAFMAAVTS VVYYHNIETSNFPKLLIALLVYWTLAFITKTIKFVKFLDHAIGFSQLRFCLTGLLVILYG MLLLVEVNVIRVRRYIFFKTPREVKPPEDLQDLGVRFLQPFVNLLSKGTYWWMNAFIKTA HKKPIDLRAIGKLPIAMRALTNYQRLCEAFDAQVRKDIQGTQGARAIWQALSHAFGRRLV LSSTFRILADLLGFAGPLCIFGIVDHLGKENDVFQPKTQFLGVYFVSSQEFLANAYVLAV LLFLALLLQRTFLQASYYVAIETGINLRGAIQTKIYNKIMHLSTSNLSMGEMTAGQICNL VAIDTNQLMWFFFLCPNLWAMPVQIIVGVILLYYILGVSALIGAAVIILLAPVQYFVATK LSQAQRSTLEYSNERLKQTNEMLRGIKLLKLYAWENIFRTRVETTRRKEMTSLRAFAIYT SISIFMNTAIPIAAVLITFVGHVSFFKEADFSPSVAFASLSLFHILVTPLFLLSSVVRST VKALVSVQKLSEFLSSAEIREEQCAPHEPTPQGPASKYQAVPLRVVNRKRPAREDCRGLT GPLQSLVPSADGDADNCCVQIMGGYFTWTPDGIPTLSNITIRIPRGQLTMIVGQVGCGKS SLLLAALGEMQKVSGAVFWSSLPDSEIGEDPSPERETATDLDIRKRGPVAYASQKPWLLN ATVEENIIFESPFNKQRYKMVIEACSLQPDIDILPHGDQTQIGERGINLSGGQRQRISVA RALYQHANVVFLDDPFSALDIHLSDHLMQAGILELLRDDKRTVVLVTHKLQYLPHADWII AMKDGTIQREGTLKDFQRSECQLFEHWKTLMNRQDQELEKETVTERKATEPPQGLSRAMS SRDGLLQDEEEEEEEAAESEEDDNLSSMLHQRAEIPWRACAKYLSSAGILLLSLLVFSQL LKHMVLVAIDYWLAKWTDSALTLTPAARNCSLSQECTLDQTVYAMVFTVLCSLGIVLCLV TSVTVEWTGLKVAKRLHRSLLNRIILAPMRFFETTPLGSILNRFSSDCNTIDQHIPSTLE CLSRSTLLCVSALAVISYVTPVFLVALLPLAIVCYFIQKYFRVASRDLQQLDDTTQLPLL SHFAETVEGLTTIRAFRYEARFQQKLLEYTDSNNIASLFLTAANRWLEVRMEYIGACVVL IAAVTSISNSLHRELSAGLVGLGLTYALMVSNYLNWMVRNLADMELQLGAVKRIHGLLKT EAESYEGLLAPSLIPKNWPDQGKIQIQNLSVRYDSSLKPVLKHVNALIAPGQKIGICGRT GSGKSSFSLAFFRMVDTFEGHIIIDGIDIAKLPLHTLRSRLSIILQDPVLFSGTIRFNLD PERKCSDSTLWEALEIAQLKLVVKALPGGLDAIITEGGENFSQGQRQLFCLARAFVRKTS IFIMDEATASIDMATENILQKVVMTAFADRTVVTIAHRVHTILSADLVIVLKRGAILEFD KPEKLLSRKDSVFASFVRADK
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Position Chain Variation Link
complement(12)-dbSNP:
complement(12)-t, adbSNP:72559429
complement(17..18)-, tggctccgcdbSNP:78092663
complement(21)-g, cdbSNP:77498130
complement(44)-t, gdbSNP:373869760
51+a, gdbSNP:193922394
complement(62)-c, adbSNP:200091822
complement(63)-g, adbSNP:147198610
complement(69)-g, adbSNP:373048139
complement(131)-t, adbSNP:200670692
complement(159)-t, cdbSNP:377209579
complement(171)-t, cdbSNP:189746511
complement(174)-t, cdbSNP:199925058
complement(195)-g, adbSNP:369059273
203+c, tdbSNP:267606623
complement(276)-dbSNP:
complement(276)-t, g, c, adbSNP:1048099
284+a, gdbSNP:80356634
complement(289)-g, adbSNP:201682634
complement(290)-t, cdbSNP:72559734
complement(298)-g, cdbSNP:72559733
complement(299)-c, adbSNP:72559732
326+c, g, tdbSNP:193929360
complement(367)-dbSNP:
complement(367)-t, cdbSNP:200687571
complement(379)-g, cdbSNP:10400391
399+c, tdbSNP:8192695
complement(399)-g, adbSNP:386616301
complement(412)-t, cdbSNP:146695489
complement(415)-g, cdbSNP:72559731
complement(421)-t, cdbSNP:144641450
complement(423)-g, adbSNP:137873871
complement(444)-g, cdbSNP:60637558
complement(461)-t, cdbSNP:76030764
complement(462)-g, adbSNP:372524091
463+c, g, tdbSNP:80356637
complement(472)-g, cdbSNP:368450282
473+c, tdbSNP:193929364
complement(483)-dbSNP:
complement(483)-g, adbSNP:372766371
complement(492)-t, g, c, adbSNP:116132921
complement(538)-g, adbSNP:1048098
complement(555)-g, adbSNP:149872185
complement(564)-t, cdbSNP:369136858
complement(568)-g, cdbSNP:1048096
complement(573)-g, adbSNP:139224499
complement(610)-t, adbSNP:368894930
complement(621)-g, adbSNP:151211613
629+a, tdbSNP:137852672
complement(678)-dbSNP:
complement(678)-t, cdbSNP:267602802
complement(679)-t, cdbSNP:376754856
696+a, c, tdbSNP:80356640
698+a, cdbSNP:188669612
700+a, cdbSNP:193929366
707+g, tdbSNP:80356642
complement(716)-t, cdbSNP:199702708
743+c, tdbSNP:1048095
complement(743)-g, adbSNP:386513206
complement(758)-t, cdbSNP:140476117
complement(792)-g, adbSNP:147276708
complement(811)-g, adbSNP:72559730
complement(812)-t, cdbSNP:376005080
complement(836)-g, adbSNP:1048094
complement(837)-g, adbSNP:1048093
complement(873)-t, cdbSNP:187271585
complement(875)-g, cdbSNP:372930264
complement(887)-t, cdbSNP:200497718
complement(892)-dbSNP:
complement(892)-g, adbSNP:201907204
complement(893)-t, cdbSNP:185040406
complement(923)-t, cdbSNP:199616008
complement(940)-g, adbSNP:199865744
complement(952)-t, adbSNP:142651082
complement(955)-t, cdbSNP:148529020
complement(959)-c, adbSNP:371802112
complement(961)-g, adbSNP:144705160
complement(963)-t, gdbSNP:375094504
complement(995)-g, cdbSNP:149347593
complement(1003)-t, gdbSNP:72559729
complement(1014)-g, adbSNP:138521721
complement(1059)-t, cdbSNP:45522932
complement(1092)-dbSNP:
complement(1092)-g, adbSNP:199592045
complement(1132)-t, cdbSNP:145136257
complement(1133)-g, adbSNP:368655419
complement(1136)-t, cdbSNP:59852838
1213+a, gdbSNP:80356651
complement(1227)-g, adbSNP:60824529
complement(1247)-dbSNP:
complement(1247)-g, cdbSNP:377104807
complement(1258)-t, gdbSNP:199763382
complement(1281)-g, adbSNP:138386829
complement(1285)-t, cdbSNP:72559728
complement(1321)-g, adbSNP:67254669
complement(1338)-g, adbSNP:370169777
complement(1350)-t, cdbSNP:112488640
complement(1412)-dbSNP:
complement(1412)-c, adbSNP:200528170
complement(1435)-g, cdbSNP:200257654
complement(1453)-t, cdbSNP:117874766
complement(1454)-g, adbSNP:202183744
complement(1458)-t, cdbSNP:373626245
complement(1465)-t, cdbSNP:369296651
complement(1503)-g, adbSNP:200303681
complement(1526)-t, cdbSNP:376080397
complement(1534)-g, adbSNP:374289323
complement(1555)-dbSNP:
complement(1555)-g, adbSNP:150956385
complement(1570)-t, cdbSNP:372307320
complement(1579)-g, adbSNP:201815564
complement(1580)-t, cdbSNP:143451249
complement(1581)-g, adbSNP:148811815
complement(1582)-c, adbSNP:200977997
complement(1592)-g, adbSNP:72559727
complement(1631)-t, cdbSNP:368114790
complement(1633)-t, cdbSNP:374624209
complement(1641)-t, cdbSNP:61748766
complement(1646)-t, cdbSNP:144481621
complement(1657)-t, adbSNP:377449772
1675+c, tdbSNP:193922396
complement(1681)-t, cdbSNP:374817078
1685+a, gdbSNP:193922397
complement(1689)-g, adbSNP:199822807
complement(1731)-dbSNP:
complement(1731)-c, adbSNP:368782953
complement(1747)-dbSNP:
complement(1747)-g, adbSNP:4148619
1755+a, c, g, tdbSNP:1799857
complement(1776)-g, adbSNP:147623093
complement(1777)-t, cdbSNP:201123779
complement(1784)-g, adbSNP:374538778
complement(1792)-t, cdbSNP:149930713
1813+c, gdbSNP:137852674
complement(1842)-g, cdbSNP:72559726
complement(1861)-g, adbSNP:139328569
complement(1869)-g, adbSNP:371181016
complement(1887)-dbSNP:
complement(1887)-g, adbSNP:202207978
complement(1888)-t, cdbSNP:377405677
complement(1899)-t, cdbSNP:150839950
complement(1927)-g, adbSNP:58241708
complement(1943)-g, adbSNP:148709148
complement(1947)-g, cdbSNP:373130710
complement(1955)-g, adbSNP:375862506
complement(1960)-, gdbSNP:72559725
complement(1977)-t, gdbSNP:372567722
complement(1988)-g, adbSNP:369049969
complement(1989)-t, cdbSNP:146156937
complement(1995)-dbSNP:
complement(1995)-g, cdbSNP:75376282
complement(2002)-t, cdbSNP:376602764
complement(2011)-g, adbSNP:373175144
2016+a, c, g, tdbSNP:1799858
complement(2026)-g, adbSNP:372230762
complement(2027)-t, cdbSNP:146378237
complement(2036)-g, cdbSNP:368018083
complement(2042)-t, cdbSNP:149400972
complement(2062)-t, adbSNP:199784172
complement(2066)-c, adbSNP:200670709
complement(2070)-g, cdbSNP:201425938
complement(2091)-g, adbSNP:371724951
complement(2093)-t, adbSNP:367780278
complement(2111)-dbSNP:
complement(2111)-g, adbSNP:137984699
complement(2129)-g, adbSNP:150316347
complement(2170..2171)-, adbSNP:72559724
complement(2173)-g, adbSNP:199732808
complement(2191)-dbSNP:
complement(2191)-g, adbSNP:201240787
complement(2216)-c, adbSNP:72559723
complement(2221)-t, cdbSNP:200286058
complement(2232)-t, cdbSNP:201724038
complement(2244)-g, adbSNP:140109097
complement(2245)-t, cdbSNP:138687850
complement(2246)-g, adbSNP:145747227
complement(2275)-c, adbSNP:191697443
complement(2278)-t, cdbSNP:376206979
complement(2304)-dbSNP:
complement(2304)-t, g, adbSNP:200708414
complement(2322)-g, adbSNP:142315209
2346+dbSNP:
2346+c, tdbSNP:1801261
complement(2371)-dbSNP:
complement(2371)-g, adbSNP:374477094
complement(2373)-g, adbSNP:199541853
complement(2458)-g, adbSNP:142620721
complement(2468)-dbSNP:
complement(2468)-g, adbSNP:377742560
complement(2472)-t, gdbSNP:148863748
complement(2476)-t, cdbSNP:369426518
complement(2491)-t, gdbSNP:202189540
complement(2503)-t, cdbSNP:146916682
complement(2517)-g, adbSNP:149628344
complement(2522)-t, cdbSNP:111228378
complement(2543)-t, cdbSNP:375172221
complement(2554)-dbSNP:
complement(2554)-t, cdbSNP:386545685
2554+c, tdbSNP:1805036
complement(2569)-g, adbSNP:140068774
complement(2575)-g, adbSNP:72559722
complement(2586)-c, adbSNP:184329953
complement(2607)-g, adbSNP:73423037
complement(2613)-g, adbSNP:144200345
complement(2679)-dbSNP:
complement(2679)-g, adbSNP:111967655
complement(2760)-g, adbSNP:201609520
complement(2842)-dbSNP:
complement(2842)-g, cdbSNP:372968932
complement(2932)-dbSNP:
complement(2932)-g, adbSNP:200877883
complement(2936)-g, adbSNP:72559721
complement(2997)-dbSNP:
complement(2997)-t, gdbSNP:370703902
complement(3027)-t, cdbSNP:58820146
complement(3042)-t, cdbSNP:369865194
complement(3044)-t, g, cdbSNP:201499958
complement(3046)-t, cdbSNP:148342166
complement(3069)-g, adbSNP:192863214
complement(3070)-t, cdbSNP:144329652
complement(3087)-g, adbSNP:149279510
complement(3107)-g, cdbSNP:72559720
3108+a, gdbSNP:17846762
complement(3108)-t, cdbSNP:386544763
complement(3110)-t, adbSNP:67706538
complement(3112)-t, gdbSNP:72559719
complement(3132)-t, gdbSNP:372504462
complement(3156)-t, gdbSNP:376413488
complement(3168)-t, cdbSNP:200693100
complement(3174)-t, cdbSNP:138722795
complement(3180)-g, adbSNP:201662945
complement(3181)-t, cdbSNP:367974472
complement(3186)-g, adbSNP:199723884
complement(3225)-g, adbSNP:145811577
3237+dbSNP:
3237+c, tdbSNP:1799860
complement(3272)-g, adbSNP:139524121
complement(3297)-c, adbSNP:368587840
complement(3319)-t, cdbSNP:138204865
complement(3361)-g, adbSNP:150368331
complement(3376)-t, gdbSNP:144348011
complement(3399)-dbSNP:
complement(3399)-t, cdbSNP:140311333
complement(3414)-t, cdbSNP:186634115
complement(3447)-g, adbSNP:375846829
complement(3482)-dbSNP:
complement(3482)-g, adbSNP:201351976
complement(3504)-g, adbSNP:371089976
complement(3505)-t, adbSNP:56945577
complement(3508)-g, adbSNP:372257088
complement(3534)-g, cdbSNP:368044193
complement(3555)-c, adbSNP:151203959
complement(3561)-g, adbSNP:376769951
complement(3579)-g, cdbSNP:1048091
complement(3584)-g, adbSNP:199626046
complement(3585)-g, adbSNP:142155036
complement(3586)-t, cdbSNP:141322087
complement(3606)-t, cdbSNP:146574155
3611+g, tdbSNP:193922399
3614+a, gdbSNP:193922400
3620+a, cdbSNP:137852675
complement(3621)-t, cdbSNP:144207158
3623+a, cdbSNP:193929369
complement(3647)-dbSNP:
complement(3647)-t, adbSNP:139486832
complement(3672)-t, cdbSNP:145874746
complement(3681)-g, adbSNP:149861153
complement(3709)-g, adbSNP:139964066
complement(3710)-t, cdbSNP:367850779
complement(3731)-dbSNP:
complement(3731)-t, cdbSNP:374298515
complement(3750)-g, adbSNP:370636988
complement(3846)-dbSNP:
complement(3846)-t, cdbSNP:150679949
complement(3847)-t, gdbSNP:374210402
3888+a, gdbSNP:1799859
complement(3903)-g, adbSNP:140414060
complement(3909)-t, cdbSNP:377362378
complement(3924)-g, adbSNP:56924677
complement(3927)-g, adbSNP:377045545
complement(3946)-dbSNP:
complement(3946)-c, adbSNP:368710356
complement(3957)-c, adbSNP:147153615
complement(3980)-g, adbSNP:374472430
complement(3987)-g, cdbSNP:372186045
complement(4007)-t, cdbSNP:372153432
complement(4021)-g, adbSNP:111603608
complement(4029)-g, adbSNP:137868047
complement(4044)-g, adbSNP:138141427
complement(4045)-t, cdbSNP:200563930
complement(4050)-t, cdbSNP:1129799
complement(4053)-g, adbSNP:368419322
complement(4077)-g, cdbSNP:67767715
complement(4120)-t, cdbSNP:149331388
4124+a, c, gdbSNP:28936370
complement(4128)-g, adbSNP:374602183
complement(4145)-g, adbSNP:377686759
complement(4159)-t, cdbSNP:138642224
complement(4161)-g, adbSNP:150151029
complement(4174)-t, gdbSNP:386611540
4174+g, tdbSNP:757110
complement(4191)-dbSNP:
complement(4191)-g, adbSNP:75218493
4204+a, c, tdbSNP:137852673
4205+g, tdbSNP:193922401
4225..4227+, tccdbSNP:387906408
complement(4226)-g, adbSNP:72559718
4228..4230+, ttcdbSNP:151344624
complement(4254)-t, cdbSNP:370459854
4267+a, gdbSNP:137852676
complement(4296)-dbSNP:
complement(4296)-g, adbSNP:146584228
complement(4308)-t, cdbSNP:373478721
4327+c, tdbSNP:28938469
4339+a, gdbSNP:80356653
4375+c, tdbSNP:193922402
4376+a, gdbSNP:387906407
complement(4411)-dbSNP:
complement(4411)-t, cdbSNP:374703754
4437+c, gdbSNP:193922403
complement(4438)-t, cdbSNP:72559717
complement(4479)-g, adbSNP:369810811
complement(4480)-t, cdbSNP:72559716
complement(4494)-dbSNP:
complement(4494)-t, cdbSNP:368134766
complement(4500)-g, adbSNP:145673861
complement(4501)-t, cdbSNP:72559715
4520+a, gdbSNP:193922405
complement(4533)-t, cdbSNP:374880588
complement(4543)-t, cdbSNP:72559714
complement(4546)-g, adbSNP:386576631
complement(4551)-g, adbSNP:374853931
complement(4554)-g, adbSNP:267602801
complement(4555)-t, cdbSNP:377696470
complement(4565)-g, cdbSNP:140599332
complement(4580)-t, adbSNP:369681363
4585+a, gdbSNP:137852671
4591+g, tdbSNP:80075294
complement(4592)-g, adbSNP:376693586
complement(4611)-t, gdbSNP:113282901
complement(4614)-t, cdbSNP:372388771
4622+dbSNP:
4622+g, tdbSNP:193922406
complement(4632)-c, adbSNP:142272833
4633+a, gdbSNP:193922407
complement(4657)-g, adbSNP:148808854
complement(4661)-g, adbSNP:372236185
4684+dbSNP:
4684+a, gdbSNP:193922408
complement(4697)-g, adbSNP:72559713
complement(4716)-g, adbSNP:367862706
4722+a, gdbSNP:17846721
complement(4725)-t, cdbSNP:145386421
complement(4735)-t, cdbSNP:374895381
complement(4761)-t, cdbSNP:370175955
complement(4772)-t, cdbSNP:374743072
complement(4776)-t, cdbSNP:192371917
complement(4777)-g, cdbSNP:200934986
4783+a, gdbSNP:8192690
complement(4789)-t, cdbSNP:199736860
complement(4794)-g, adbSNP:200402268
complement(4797)-g, adbSNP:73419228
complement(4801)-g, adbSNP:147170162
complement(4802)-t, cdbSNP:143557848
complement(4826)-t, gdbSNP:375603803
complement(4834)-g, adbSNP:377398594
complement(4862)-g, adbSNP:201109109
Gene SymbolABCC8
Gene SynonymABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
Chromosome11
Locus Map11p15.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000352 Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), transcript variant 2, mRNA. On-demand $2699.00 30
NM_000352 Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), transcript variant 2, mRNA. On-demand $2699.00 30
NM_000352 Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), transcript variant 2, mRNA. On-demand $2699.00 30
Title Phosphatidylinositol 4,5-biphosphate (PIP2) modulates interaction of syntaxin-1A with sulfonylurea receptor 1 to regulate pancreatic beta-cell ATP-sensitive potassium channels .
Author Liang T, Xie L, Chao C, Kang Y, Lin X, Qin T, Xie H, Feng ZP and Gaisano HY.
Journal J. Biol. Chem. 289 (9), 6028-6040 (2014)
Title Characterization of the ABCC8 gene mutation and phenotype in patients with congenital hyperinsulinism in western Saudi Arabia .
Author Al-Agha AE and Ahmad IA.
Journal Saudi Med J 34 (10), 1002-1006 (2013)
Title Sulfonylurea receptor 1 expression in human cerebral infarcts .
Author Mehta RI, Ivanova S, Tosun C, Castellani RJ, Gerzanich V and Simard JM.
Journal J. Neuropathol. Exp. Neurol. 72 (9), 871-883 (2013)
Title Meta-analysis of association of common variants in the KCNJ11-ABCC8 region with type 2 diabetes .
Author Qin LJ, Lv Y and Huang QY.
Journal Genet. Mol. Res. 12 (3), 2990-3002 (2013)
Title ABCC8 and ABCC9: ABC transporters that regulate K+ channels .
Author Bryan J, Munoz A, Zhang X, Dufer M, Drews G, Krippeit-Drews P and Aguilar-Bryan L.
Journal Pflugers Arch. 453 (5), 703-718 (2007)
Title Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor .
Author Inagaki N, Gonoi T, Clement JP 4th, Namba N, Inazawa J, Gonzalez G, Aguilar-Bryan L, Seino S and Bryan J.
Journal Science 270 (5239), 1166-1170 (1995)
Title Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy .
Author Thomas PM, Cote GJ, Wohllk N, Haddad B, Mathew PM, Rabl W, Aguilar-Bryan L, Gagel RF and Bryan J.
Journal Science 268 (5209), 426-429 (1995)
Title Cloning of the beta cell high-affinity sulfonylurea receptor: a regulator of insulin secretion .
Author Aguilar-Bryan L, Nichols CG, Wechsler SW, Clement JP 4th, Boyd AE 3rd, Gonzalez G, Herrera-Sosa H, Nguy K, Bryan J and Nelson DA.
Journal Science 268 (5209), 423-426 (1995)
Title Permanent Neonatal Diabetes Mellitus .
Author De Leon,D.D. and Stanley,C.A.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Familial Hyperinsulinism .
Author Glaser,B.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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