Product Details

SNP ID

rs201498132

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:30484705 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAAAATGGCAGAATATACCAACAGT[A/G]CAGGTGTCCCCTCCTTGAATGCAGC

Phenotype

MIM: 604026

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GOSR1 PubMed Links

Gene Details

Gene

GOSR1

Gene Name

golgi SNAP receptor complex member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001007024.1	550	Missense Mutation	ACA,GCA	T30A	NP_001007025.1
NM_001007025.1	550	Missense Mutation	ACA,GCA	T93A	NP_001007026.1
NM_004871.2	550	Missense Mutation	ACA,GCA	T95A	NP_004862.1
XM_005258070.4	550	Missense Mutation	ACA,GCA	T145A	XP_005258127.1
XM_005258071.4	550	Missense Mutation	ACA,GCA	T143A	XP_005258128.1
XM_005258072.2	550	Missense Mutation	ACA,GCA	T30A	XP_005258129.1
XM_017025374.1	550	Missense Mutation	ACA,GCA	T145A	XP_016880863.1
XM_017025375.1	550	Missense Mutation	ACA,GCA	T95A	XP_016880864.1
XM_017025376.1	550	Missense Mutation	ACA,GCA	T93A	XP_016880865.1
XM_017025377.1	550	Missense Mutation	ACA,GCA	T145A	XP_016880866.1

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