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6005 RHAG

6005

RHAG

Rh associated glycoprotein

protein-coding

Homo sapiens

基因描述

Type Description
Definition Rh associated glycoprotein

研究结论

Date Results Publications
2020-06-06 11:24:00 Rhnull phenotype caused by a novel RHAG mutation, c.945+1G>A, in the Japanese population. 30990901
2020-05-02 12:36:00 identified the second double-variant RHAG allele and the first one related to Rhmod phenotype. The novel allele was also confirmed to be heritable by family analyses. 31032541
2019-09-07 11:41:00 A novel RHAG mutation significantly lowers RhAG antigen expression and antigen-mediated agglutination intensity. 29508504
2018-09-08 11:30:00 A novel nucleotide deletion in RHAG allele identified in a Chinese Rhnull individual. 29266289
2018-08-04 11:48:00 Case Report: complex RHAG genotype including a novel de novo mutation associated with overhydrated stomatocytosis. 29559519

名称对应

Type IDs
Synonymous CD241, OHS, OHST, RH2, RH50A, RHNR, Rh50, Rh50GP, SLC42A1
Gene
UniProtKB-ID: RHAG_HUMAN, Q96E98_HUMAN
UniprotKB: Q02094, Q96E98
UniParc: UPI000006D18F, UPI00000739A1, UPI0000070052
EMBL: X64594, AL121950, AK313505, AF031549, BC012605, AF237385, AF237383, AF237382, AF237387, AF031548, AF237386, AL590244, AF237384, CH471081
Ensembl: ENSG00000112077
KO: hsa:6005
Nucleutide sequences
EMBL-CDS: AAC04248.1, EAX04337.1, AAF78209.1, EAX04338.1, CAA45883.1, AAC04247.1, BAG36285.1, AAH12605.1
Ensembl_TRS: ENST00000371175, ENST00000646939
Protein sequencees
Ensembl_PRO: ENSP00000360217, ENSP00000494709
RefSeq: NP_000315.2, XP_011513090.1
Others
UniRef100: UniRef100_Q02094, UniRef100_Q96E98
UniRef90: UniRef90_Q02094
UniRef50: UniRef50_Q02094
UniGene: Hs.120950
CCDS: CCDS4927.1

全选

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