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3040 HBA2

3040

HBA2

hemoglobin subunit alpha 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition hemoglobin subunit alpha 2

研究结论

Date Results Publications
2021-04-17 13:38:00 In Silico Analysis of the Effects of Point Mutations on alpha-Globin: Implications for alpha-Thalassemia. 32420790
2021-04-17 13:37:00 Hematological Characteristics of Hb Constant Spring (HBA2: c.427T>C) Carriers in Mainland China. 32338097
2021-03-20 13:28:00 Effect of Mutations on mRNA and Globin Stability: The Cases of Hb Bernalda/Groene Hart and Hb Southern Italy. 32751969
2021-02-13 13:26:00 Coinheritance of Triplicated Alpha-Globin Gene and Beta-Thalassemia Mutations in Adulthood: Ten Years of Referrals in Northern Greece. 32032239
2020-05-23 10:20:00 identified a novel mutation of the translation initiation codon of the alpha2-globin gene 31690131

名称对应

Type IDs
Synonymous ECYT7, HBA-T2, HBH
Gene
UniProtKB-ID: HBA_HUMAN, D1MGQ2_HUMAN
UniprotKB: P69905, D1MGQ2
UniParc: UPI0000000239
EMBL: AF525460, CH471112, AF536204, AF097635, HQ156224, BC008572, AF230076, BC005931, DQ499017, BC101846, V00491, MK600513, AE006462, AF349571, MF970420, GU145033, Z84721, J00153, DQ431198, BC101848, V00493, MK600512, AF105974, DQ499018, AK223392, BC032122, MK600511, V00488, BC050661, MF970421, V00516
Ensembl: ENSG00000206172, ENSG00000188536
KO: hsa:3039, hsa:3040
Nucleutide sequences
EMBL-CDS: CAA23748.1, AAI01849.1, ABF56144.1, AAH08572.1, CAB06555.1, AAH50661.1, ABF56145.1, AAK37554.1, BAD97112.1, AAH05931.1, CAA23752.1, AAC97373.1, AAI01847.1, AAK61215.1, CAA23774.1, AAB59407.1, AAK61216.1, AAH32122.1, AAB59408.1, ABD95911.1, AAF72612.1, AAM83102.1, ABD95910.1, AAC72839.1, CAA23750.1, AAN04486.1, CAB06554.1, ACZ54507.1, AXY54997.1, QDE10563.1, AXY54996.1, ADV78002.1, QDE10564.1, QDE10565.1, EAW85863.1
Gene_ORFName: hCG_1745306
Ensembl_TRS: ENST00000251595, ENST00000320868
Protein sequencees
Ensembl_PRO: ENSP00000251595, ENSP00000322421
RefSeq: NP_000508.1
Others
UniRef100: UniRef100_P69905
UniRef90: UniRef90_P69905
UniRef50: UniRef50_P69905
UniGene: Hs.449630, Hs.654744
CCDS: CCDS10398.1, CCDS10399.1

全选

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