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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens post-GPI attachment to proteins 2 (PGAP2), transcript variant 1, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu06412 Homo sapiens post-GPI attachment to proteins 2 (PGAP2), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand $159.00 7-9
OHu06412C Homo sapiens post-GPI attachment to proteins 2 (PGAP2), transcript variant 1, mRNA. Customized vector On-demand $209.00 7-9

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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_014489.3, 371940848
Length 948 bp
Structure linear
Update Date 26-FEB-2014
Organism Homo sapiens (human)
Definition Homo sapiens post-GPI attachment to proteins 2 (PGAP2), transcript variant 1, mRNA.
Product post-GPI attachment to proteins factor 2 isoform 1
Comment

COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from CB988453.1, AF159615.1 and AL096753.1. On Jan 12, 2012 this sequence version replaced gi:224465188.


Transcript Variant: This variant (1) encodes isoform 1.


##Evidence-Data-START## Transcript exon combination :: AF159615.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

RefSeq NP_055304.1
CDS 127..1074
Misc Feature(1)196..258
Misc Feature(2)196..258
Misc Feature(3)361..1032
Exon (1)1..116
Gene:PGAP2
Gene Synonym:CWH43-N; FRAG1; HPMRS3; MRT17; MRT21
Exon (2)117..291
Gene:PGAP2
Gene Synonym:CWH43-N; FRAG1; HPMRS3; MRT17; MRT21
Exon (3)292..474
Gene:PGAP2
Gene Synonym:CWH43-N; FRAG1; HPMRS3; MRT17; MRT21
Exon (4)475..727
Gene:PGAP2
Gene Synonym:CWH43-N; FRAG1; HPMRS3; MRT17; MRT21
Exon (5)728..834
Gene:PGAP2
Gene Synonym:CWH43-N; FRAG1; HPMRS3; MRT17; MRT21
Exon (6)835..943
Gene:PGAP2
Gene Synonym:CWH43-N; FRAG1; HPMRS3; MRT17; MRT21
Exon (7)944..1987
Gene:PGAP2
Gene Synonym:CWH43-N; FRAG1; HPMRS3; MRT17; MRT21
Translation MYQVPLPLDRDGTLVRLRFTMVALVTVCCPLVAFLFCILWSLLFHFKETTATHCGATPCR MFSAASQPLDPDGTLFRLRFTAMVWWAITFPVFGFFFCIIWSLVFHFEYTVATDCGVPNY LPSVSSAIGGEVPQRYVWRFCIGLHSAPRFLVAFAYWNHYLSCTSPCSCYRPLCRLNFGL NVVENLALLVLTYVSSSEDFTIHENAFIVFIASSLGHMLLTCILWRLTKKHTVSQEDRKS YSWKQRLFIINFISFFSALAVYFRHNMYCEAGVYTIFAILEYTVVLTNMAFHMTAWWDFG NKELLITSQPEEKRF
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Position Chain Variation Link
18+dbSNP:
18+c, tdbSNP:186702137
43+c, gdbSNP:191164612
97+c, gdbSNP:61896956
142+c, tdbSNP:201106251
145+c, tdbSNP:201888053
154+c, tdbSNP:181958368
156+g, tdbSNP:139604328
168+a, gdbSNP:372719767
173+a, gdbSNP:144780584
178+c, tdbSNP:200164387
205+a, gdbSNP:151300350
220+g, tdbSNP:140588348
245+a, gdbSNP:376934151
255+a, cdbSNP:150486631
306+dbSNP:
306+a, gdbSNP:373685493
308+c, tdbSNP:34117886
314+c, tdbSNP:141195165
318+a, gdbSNP:372023768
334+c, gdbSNP:145026023
335+a, cdbSNP:373781502
340+c, gdbSNP:138861663
361+c, tdbSNP:138755774
389+c, tdbSNP:367747647
405+c, tdbSNP:75812077
428+g, tdbSNP:202124578
451+a, tdbSNP:371314694
456+a, gdbSNP:201474442
511+dbSNP:
511+a, gdbSNP:200492831
513+c, tdbSNP:373314351
520+g, tdbSNP:61899367
530+a, gdbSNP:142043517
547+a, tdbSNP:143536266
552+c, tdbSNP:376399242
556+c, gdbSNP:370582493
564+a, gdbSNP:369230650
583+a, gdbSNP:148038526
607+c, tdbSNP:141753374
624+a, gdbSNP:199825792
635+a, gdbSNP:185342002
650+a, gdbSNP:150583814
656+a, tdbSNP:377757894
661+a, gdbSNP:201471637
670+a, gdbSNP:146962851
673+a, gdbSNP:371241993
686+c, tdbSNP:375763335
687+a, gdbSNP:200911064
701+c, tdbSNP:142694334
717+c, tdbSNP:377633814
735+dbSNP:
735+c, tdbSNP:147354096
736+a, gdbSNP:139509051
767+a, cdbSNP:145152257
783+c, tdbSNP:368793106
802+a, cdbSNP:144767060
838+dbSNP:
838+c, tdbSNP:117338939
851+c, gdbSNP:148137953
867+c, tdbSNP:371919171
876+c, tdbSNP:142937268
909+c, gdbSNP:376152755
922+a, gdbSNP:374519074
981+dbSNP:
981+c, tdbSNP:370042505
1014+c, gdbSNP:374521929
1038+c, gdbSNP:151115501
1083+g, tdbSNP:377704337
1084+a, tdbSNP:200081631
1086+c, tdbSNP:376037324
1099+c, tdbSNP:371208237
1110+g, tdbSNP:373030868
1126+c, tdbSNP:377126191
1182+g, tdbSNP:1055628
1238..1239+, tcdbSNP:201829433
complement(1239..1241)-, gagdbSNP:3217617
complement(1241)-, gagdbSNP:397727190
1242..1244+, ctcdbSNP:398054917
1243..1245+, tctdbSNP:201013190
1340..1341+, adbSNP:35179044
1350..1351+, adbSNP:398044966
1467+c, tdbSNP:182749882
1469+g, tdbSNP:76317697
1485+c, tdbSNP:113873429
1499+g, tdbSNP:77367457
1548+c, gdbSNP:191725372
1576+c, tdbSNP:138826089
complement(1617)-t, gdbSNP:15792
1647+c, tdbSNP:1055639
1648+a, gdbSNP:183631254
1679+a, gdbSNP:1055640
1700+a, gdbSNP:188963246
1702+c, tdbSNP:192311078
1746+c, tdbSNP:116386717
complement(1816)-g, adbSNP:15820
1937+c, tdbSNP:78433723
1951..1952+, tdbSNP:202227330
Gene SymbolPGAP2
Gene SynonymCWH43-N; FRAG1; HPMRS3; MRT17; MRT21
Chromosome11
Locus Map11p15.5
Title PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome .
Author Krawitz PM, Murakami Y, Riess A, Hietala M, Kruger U, Zhu N, Kinoshita T, Mundlos S, Hecht J, Robinson PN and Horn D.
Journal Am. J. Hum. Genet. 92 (4), 584-589 (2013)
Title Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability .
Author Hansen L, Tawamie H, Murakami Y, Mang Y, ur Rehman S, Buchert R, Schaffer S, Muhammad S, Bak M, Nothen MM, Bennett EP, Maeda Y, Aigner M, Reis A, Kinoshita T, Tommerup N, Baig SM and Abou Jamra R.
Journal Am. J. Hum. Genet. 92 (4), 575-583 (2013)
Title PGAP2 is essential for correct processing and stable expression of GPI-anchored proteins .
Author Tashima Y, Taguchi R, Murata C, Ashida H, Kinoshita T and Maeda Y.
Journal Mol. Biol. Cell 17 (3), 1410-1420 (2006)
Title Expressed sequence tag analysis of adult human lens for the NEIBank Project: over 2000 non-redundant transcripts, novel genes and splice variants .
Author Wistow G, Bernstein SL, Wyatt MK, Behal A, Touchman JW, Bouffard G, Smith D and Peterson K.
Journal Mol. Vis. 8, 171-184 (2002)
Title Human FRAG1 encodes a novel membrane-spanning protein that localizes to chromosome 11p15.5, a region of frequent loss of heterozygosity in cancer .
Author Lorenzi MV, Castagnino P, Aaronson DC, Lieb DC, Lee CC, Keck CL, Popescu NC and Miki T.
Journal Genomics 62 (1), 59-66 (1999)
Title Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening .
Author Robertson NG, Khetarpal U, Gutierrez-Espeleta GA, Bieber FR and Morton CC.
Journal Genomics 23 (1), 42-50 (1994)

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