Product Details

SNP ID
rs200418642
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:30481235 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGTACAAGTTACAGTCATAGCAGT[A/G]CCCGAGATGGAAGACGCGACAGGTA
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_001007024.1 391 UTR 5 NP_001007025.1
NM_001007025.1 391 Missense Mutation ACC,GCC T42A NP_001007026.1
NM_004871.2 391 Missense Mutation ACC,GCC T42A NP_004862.1
XM_005258070.4 391 Missense Mutation ACC,GCC T92A XP_005258127.1
XM_005258071.4 391 Missense Mutation ACC,GCC T92A XP_005258128.1
XM_005258072.2 391 UTR 5 XP_005258129.1
XM_017025374.1 391 Missense Mutation ACC,GCC T92A XP_016880863.1
XM_017025375.1 391 Missense Mutation ACC,GCC T42A XP_016880864.1
XM_017025376.1 391 Missense Mutation ACC,GCC T42A XP_016880865.1
XM_017025377.1 391 Missense Mutation ACC,GCC T92A XP_016880866.1

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