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6521 SLC4A1

6521

SLC4A1

solute carrier family 4 member 1 (Diego blood group)

protein-coding

Homo sapiens

基因描述

Type Description
Definition solute carrier family 4 member 1 (Diego blood group)

研究结论

Date Results Publications
2021-03-28 19:07:00 Genotypic analysis of SLC4A1 A858D mutation in Indian population associated with distal renal tubular Acidosis (dRTA) coupled with hemolytic anemia. 33068675
2021-02-27 13:47:00 Genome-Wide Association for HbA1c in Malay Identified Deletion on SLC4A1 that Influences HbA1c Independent of Glycemia. 32936915
2021-02-06 13:56:00 A Novel Compound Heterozygous Mutation in SLC4A1 Gene Causing Severe Hereditary Spherocytosis and Distal Renal Tubular Acidosis. 31933135
2020-10-24 14:01:00 The kidney anion exchanger 1 affects tight junction properties via claudin-4. 30816203
2020-08-22 15:32:00 Non-oxidative band-3 clustering agents cause the externalization of phosphatidylserine on erythrocyte surfaces by a calcium-independent mechanism. 32119860

名称对应

Type IDs
Synonymous AE1, BND3, CD233, CHC, DI, EMPB3, EPB3, FR, RTA1A, SAO, SPH4, SW, WD, WD1, WR
Gene
UniProtKB-ID: B3AT_HUMAN
UniprotKB: P02730
UniParc: UPI0001E30F07, UPI00000375B8
EMBL: BC099629, CH471178, BC101574, BC096106, DQ419529, X12609, BC101570, BC096107, DQ072115, BC099628, M27819, GQ981384, S68680, GQ981383
Ensembl: ENSG00000004939
KO: hsa:6521
Nucleutide sequences
EMBL-CDS: AAH99628.1, EAW51614.1, AAH99629.1, AAY57324.1, AAC60608.2, AAH96107.1, AAI01575.1, AAA35514.1, ADN39420.1, ADN39421.1, AAH96106.1, ABD74692.1, CAA31128.1, AAI01571.1
Ensembl_TRS: ENST00000262418
Protein sequencees
Ensembl_PRO: ENSP00000262418
RefSeq: XP_011523431.1, NP_000333.1, XP_011523432.1, XP_005257650.1
Others
UniRef100: UniRef100_P02730
UniRef90: UniRef90_P02730
UniRef50: UniRef50_P02730
UniGene: Hs.443948
CCDS: CCDS11481.1

全选

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