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6444 SGCD

6444

SGCD

sarcoglycan delta

protein-coding

Homo sapiens

基因描述

Type Description
Definition sarcoglycan delta

研究结论

Date Results Publications
2018-04-07 11:50:00 Study identified 2 non-synonymous missense mutations: c.C652T, p.R218W in ACVRL1, c.C717G, p.D239E in SGCD in Chinese population with total anomalous pulmonary venous return. 28412737
2017-07-01 10:06:00 Dilated cardiomyopathy mutations in delta-sarcoglycan can exert a dominant negative effect on dystrophin-glycoprotein complex function leading to myocardial mechanical instability that may underlie the pathogenesis of delta-sarcoglycan-associated DCM. 26968544
2016-07-02 11:52:00 haplotype -_G composed of c.-100~-110 and A848G confers higher susceptibility to dilated cardiomyopathy in the Mongoloid population. 26720722
2015-08-01 11:24:00 CC genotype of the delta-sarcoglycan gene polymorphism rs13170573 is associated with obstructive sleep apnea in the Chinese population 25474115
2014-02-22 11:47:00 Genetic variation at the delta-sarcoglycan locus elevates heritable sympathetic nerve activity in human twin pairs 23786442

名称对应

Type IDs
Synonymous 35DAG, CMD1L, DAGD, LGMDR6, SG-delta, SGCDP, SGD
Gene
UniProtKB-ID: SGCD_HUMAN
UniprotKB: Q92629
UniParc: UPI000014A6BA, UPI000013E845, UPI00001678CF
EMBL: AK292794, U58331, BC020740, BX537948, X95191
Ensembl: ENSG00000170624
KO: hsa:6444
Nucleutide sequences
EMBL-CDS: BAF85483.1, CAA64490.1, AAH20740.1, CAD97916.1, AAC50921.1
Ensembl_TRS: ENST00000517913, ENST00000337851, ENST00000435422
Protein sequencees
Ensembl_PRO: ENSP00000403003, ENSP00000338343, ENSP00000429378
RefSeq: NP_758447.1, XP_011532923.1, NP_001121681.1, XP_005266024.1, XP_016865212.1, XP_005266023.1, XP_016865213.1, NP_000328.2
Others
UniRef100: UniRef100_Q92629
UniRef90: UniRef90_P82347
UniRef50: UniRef50_P82347
UniGene: Hs.387207, Hs.644733
CCDS: CCDS47327.1, CCDS47325.1, CCDS47326.1

全选

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