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Blast Method:


Homo sapiens hemoglobin, alpha 1 (HBA1), mRNA.

RefSeq Accession Definition Services Price Order
NM_000558 Homo sapiens hemoglobin, alpha 1 (HBA1), mRNA. ORF Sequence $159.00
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RefSeq Version NM_000558.3, 14456711
Length 576 bp
Structure linear
Update Date 21-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens hemoglobin, alpha 1 (HBA1), mRNA.
Product hemoglobin subunit alpha

Summary: The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008].

RefSeq NP_000549.1
CDS 38..466
Misc Feature(1)41..43
Misc Feature(2)41..43
Misc Feature(3)47..448
Misc Feature(4)59..61
Misc Feature(5)71..73
Misc Feature(6)86..88
Misc Feature(7)86..88
Misc Feature(8)110..112
Misc Feature(9)order(125..127,155..157,164..169,212..214,221..223,
Misc Feature(10)164..166
Misc Feature(11)206..208
Misc Feature(12)218..220
Misc Feature(13)221..223
Misc Feature(14)308..310
Misc Feature(15)335..337
Exon (1)1..132
Gene Synonym:CD31; HBH
Exon (2)133..337
Gene Synonym:CD31; HBH
Exon (3)338..576
Gene Synonym:CD31; HBH
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Position Chain Variation Link
22+c, tdbSNP:34702814
38+a, gdbSNP:34220980
41+g, tdbSNP:281864485
42+a, g, tdbSNP:281864802
45+g, tdbSNP:36030576
46..47+, ctgdbSNP:281864548
47+c, tdbSNP:281864479
48+c, tdbSNP:35850071
53+c, gdbSNP:34751764
54+a, cdbSNP:34090856
56..58+, gacdbSNP:281865565
56+a, c, g, tdbSNP:33961916
57+a, c, g, tdbSNP:33986902
59+a, gdbSNP:281864807
61+c, gdbSNP:34410516
66+c, g, tdbSNP:281860650
67+c, gdbSNP:28928885
71+a, c, gdbSNP:33938574
73+a, c, gdbSNP:281860646
75+a, cdbSNP:35615982
77+a, c, gdbSNP:35331909
80+a, c, tdbSNP:33964317
81+a, g, tdbSNP:63750090
83+c, g, tdbSNP:35816645
84+a, gdbSNP:281865560
86+a, gdbSNP:41407250
87+a, c, tdbSNP:35210126
88+a, c, gdbSNP:281860648
92+c, g, tdbSNP:34504387
93+a, gdbSNP:35993097
96+a, cdbSNP:35628685
98+c, g, tdbSNP:34708054
99..100+, tdbSNP:281864571
99+a, c, gdbSNP:33943087
100+a, cdbSNP:281864502
101+c, gdbSNP:34324664
102+a, c, tdbSNP:11548605
105+a, gdbSNP:34608326
107+a, c, g, tdbSNP:33939620
108+a, g, tdbSNP:33939421
109+a, cdbSNP:281860684
110+c, tdbSNP:34743106
111+a, gdbSNP:28928880
117+a, c, tdbSNP:35477770
119+a, gdbSNP:34776279
120+a, c, g, tdbSNP:33964507
121+c, g, tdbSNP:41530750
123+c, tdbSNP:281864500
125+c, gdbSNP:63749791
128+a, c, gdbSNP:33993166
129+a, c, tdbSNP:33946121
132+c, gdbSNP:281864580
133+a, c, gdbSNP:281860652
135+a, tdbSNP:281864566
141+g, tdbSNP:35203445
149..151+, cccdbSNP:35992350
150+c, g, tdbSNP:35776155
151..152+, gaadbSNP:34667595
152+a, gdbSNP:281864503
153+a, gdbSNP:281860683
155..157+, accdbSNP:63751150
158+a, gdbSNP:34492931
159+a, c, tdbSNP:41416747
160+c, gdbSNP:28928886
161+a, tdbSNP:34890875
162+c, gdbSNP:281860622
165+a, cdbSNP:281864569
167+g, tdbSNP:35511459
170+c, gdbSNP:281860643
171+c, g, tdbSNP:33978134
173+c, g, tdbSNP:33931984
174+a, c, gdbSNP:28928883
175+c, gdbSNP:281860685
176+a, c, gdbSNP:281860631
179+a, c, g, tdbSNP:34269448
180+a, c, gdbSNP:33944368
183+c, tdbSNP:281864480
188+c, tdbSNP:281864501
189+a, g, tdbSNP:33967561
190+a, c, gdbSNP:33966883
191+a, c, gdbSNP:33960522
192..204+, gctctgcccaggtdbSNP:63749935
192+a, gdbSNP:35934411
194..217+, tctgcccaggttaagggccacggcdbSNP:63750122
198+a, c, tdbSNP:34574239
200+c, gdbSNP:35317336
201+a, gdbSNP:36024711
203+c, gdbSNP:34068598
204+c, tdbSNP:281864896
206+a, gdbSNP:34182019
207+a, c, gdbSNP:33949106
208+a, c, gdbSNP:281860657
209+c, gdbSNP:35252931
210+a, gdbSNP:36062788
212+c, tdbSNP:35213748
215+a, gdbSNP:281864895
216+a, c, g, tdbSNP:28928878
218+a, gdbSNP:34259907
220+a, c, gdbSNP:281860659
221..223+, aagdbSNP:34353199
221+c, tdbSNP:281860686
222+a, cdbSNP:41381645
223+c, g, tdbSNP:281864775
224..226+, gtgdbSNP:35672478
226+, gdbSNP:281864545
228+a, cdbSNP:34502246
230+a, c, g, tdbSNP:33984024
231+a, gdbSNP:35873730
234+c, tdbSNP:34733452
242+a, c, g, tdbSNP:34823698
244..245+, gcgctgaccaa, gcgctgaccaacdbSNP:34277525
244+a, c, gdbSNP:1060339
248+a, gdbSNP:63750275
251+a, gdbSNP:281864498
252+a, c, g, tdbSNP:3180281
254+c, g, tdbSNP:36104787
255+a, gdbSNP:35859529
260+a, c, gdbSNP:28928875
261+a, c, g, tdbSNP:33921047
263+a, c, g, tdbSNP:33977363
264+a, c, gdbSNP:33991223
267+a, c, g, tdbSNP:33969953
270+a, c, gdbSNP:34019158
272+a, c, gdbSNP:33964623
274+c, gdbSNP:34440919
275+a, gdbSNP:34586189
279+g, tdbSNP:34071856
282+c, gdbSNP:34936612
284..292+, gccctgagcdbSNP:63751491
284+a, gdbSNP:63750676
285+a, cdbSNP:34879587
290+a, c, gdbSNP:33926206
292+a, c, gdbSNP:33996798
293+a, c, g, tdbSNP:33915947
295+a, c, gdbSNP:281864578
296+c, gdbSNP:281864516
297+g, tdbSNP:35548338
299+a, c, g, tdbSNP:28928876
300+a, c, gdbSNP:33976776
302+g, tdbSNP:35239527
303+a, c, g, tdbSNP:281864870
305+c, tdbSNP:34988734
306+a, c, g, tdbSNP:33944813
307+a, c, gdbSNP:1061009
308+a, gdbSNP:281864481
309+a, c, g, tdbSNP:33911106
310+c, g, tdbSNP:33914470
311+c, tdbSNP:17407508
312+c, tdbSNP:34684963
314+c, tdbSNP:34868036
315+a, c, g, tdbSNP:33991779
318+c, g, tdbSNP:34769782
320+a, c, g, tdbSNP:34102339
321+a, c, gdbSNP:28928879
322+c, gdbSNP:34814612
323+a, c, g, tdbSNP:33984621
324+a, c, g, tdbSNP:33931314
326+c, gdbSNP:281864551
329+a, cdbSNP:41322954
333+a, tdbSNP:281864483
335+a, gdbSNP:34806456
337+g, tdbSNP:34273731
346+a, cdbSNP:34098449
347+c, tdbSNP:28928884
348+a, gdbSNP:35329201
350+a, tdbSNP:35059618
352+c, gdbSNP:281864534
357+c, tdbSNP:281864482
361+a, gdbSNP:138407823
364+, cdbSNP:281864535
368+a, gdbSNP:34629158
369+a, c, tdbSNP:63749948
370..382+, cgcccacctccccdbSNP:281864536
371+a, gdbSNP:34863047
374+c, gdbSNP:34830032
375+a, gdbSNP:34713708
376+a, cdbSNP:281864564
378+a, tdbSNP:35654345
380+c, g, tdbSNP:34472107
381+c, g, tdbSNP:33910377
384+a, c, tdbSNP:34204059
386+a, c, gdbSNP:63749882
387+a, cdbSNP:35932809
395+c, tdbSNP:63750751
396+c, tdbSNP:63750566
399+a, cdbSNP:63749927
401+a, gdbSNP:63751008
404+c, tdbSNP:63750922
407+c, g, tdbSNP:28928881
416+a, c, g, tdbSNP:63750950
417+a, c, g, tdbSNP:63750467
418+c, gdbSNP:63751204
420+a, cdbSNP:63751308
421+c, g, tdbSNP:63749865
426+c, tdbSNP:35993655
429+a, c, tdbSNP:63750613
431+c, tdbSNP:35974739
432+c, tdbSNP:36008624
433..434+, tdbSNP:34021271
433+c, tdbSNP:149264789
433+, tdbSNP:281864472
434+a, gdbSNP:281864506
435+g, tdbSNP:35166834
437+a, cdbSNP:55948437
438+a, gdbSNP:35082275
439+a, c, gdbSNP:56308100
440+a, tdbSNP:281864489
441+, cdbSNP:281864473
441+c, gdbSNP:281864487
443+a, gdbSNP:63751237
444+a, tdbSNP:35994191
446+a, cdbSNP:121913127
447+c, g, tdbSNP:34635364
449+a, cdbSNP:281864477
452+c, tdbSNP:34011123
453+c, gdbSNP:63749989
455+, adbSNP:281865478
455+a, gdbSNP:33973086
456+a, cdbSNP:34849179
457+, adbSNP:63751216
458+c, tdbSNP:35723200
461..463+, cgtdbSNP:121913128
461+a, c, g, tdbSNP:33991910
462+a, c, g, tdbSNP:33935328
478+c, gdbSNP:200499392
495+c, gdbSNP:17135334
497+c, gdbSNP:200097667
505+c, tdbSNP:3180978
512+a, cdbSNP:141514155
537+c, gdbSNP:11864706
562+a, gdbSNP:281864533
Gene SymbolHBA1
Gene SynonymCD31; HBH
Locus Map16p13.3
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000558 Homo sapiens hemoglobin, alpha 1 (HBA1), mRNA. Full Length $167.04
ORF Sequence $159.00
Title Evidence of differential selection for the -alpha(3.7) and -alpha(4.2) single-alpha-globin gene deletions within the same population .
Author Yap,Z.M., Sun,K.M., Teo,C.R., Tan,A.S. and Chong,S.S.
Journal Eur. J. Haematol. 90 (3), 210-213 (2013)
Title Haptoglobin genotype is a consistent marker of coronary heart disease risk among individuals with elevated glycosylated hemoglobin .
Author Cahill,L.E., Levy,A.P., Chiuve,S.E., Jensen,M.K., Wang,H., Shara,N.M., Blum,S., Howard,B.V., Pai,J.K., Mukamal,K.J., Rexrode,K.M. and Rimm,E.B.
Journal J. Am. Coll. Cardiol. 61 (7), 728-737 (2013)
Title Endothelial cell expression of haemoglobin alpha regulates nitric oxide signalling .
Author Straub,A.C., Lohman,A.W., Billaud,M., Johnstone,S.R., Dwyer,S.T., Lee,M.Y., Bortz,P.S., Best,A.K., Columbus,L., Gaston,B. and Isakson,B.E.
Journal Nature 491 (7424), 473-477 (2012)
Title Identification of alpha-globin chain variants: a report from Iran .
Author Akbari,M.T. and Hamid,M.
Journal Arch Iran Med 15 (9), 564-567 (2012)
Title Increased blood glycohemoglobin A1c levels lead to overestimation of arterial oxygen saturation by pulse oximetry in patients with type 2 diabetes .
Author Pu,L.J., Shen,Y., Lu,L., Zhang,R.Y., Zhang,Q. and Shen,W.F.
Journal Cardiovasc Diabetol 11, 110 (2012)
Title Hemoglobin Dunn: alpha 6 (A4) aspartic acid replaced by asparagine .
Author Jue,D.L., Johnson,M.H., Patchen,L.C. and Moo-Penn,W.F.
Journal Hemoglobin 3 (2-3), 137-143 (1979)
Title Hemoglobin Moabit: alpha 86 (F7) Leu leads to Arg: a new unstable abnormal hemoglobin .
Author Knuth,A., Pribilla,W., Marti,H.R. and Winterhalter,K.H.
Journal Acta Haematol. 61 (3), 121-124 (1979)
Title Hemoglobin J Rovigo (alpha53 Ala replaced by Asp) in association with beta-thalassemia .
Author Moo-Penn,W.F., Jue,D.L. and Baine,R.M.
Journal Hemoglobin 2 (5), 443-445 (1978)
Title The nucleotide sequences of the untranslated 5' regions of human alpha- and beta-globin mRNAs .
Author Chang,J.C., Temple,G.F., Poon,R., Neumann,K.H. and Kan,Y.W.
Journal Proc. Natl. Acad. Sci. U.S.A. 74 (11), 5145-5149 (1977)
Title Haemoglobin G Norfolk alpha 85 (F6) Asp leads to Asn. Structural characterization by sequenator analysis and functional properties of a new variant with high oxygen affinity .
Author Cohen-Solal,M., Manesse,B., Thillet,J. and Rosa,J.
Journal FEBS Lett. 50 (2), 163-167 (1975)

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