Product Details

SNP ID
rs200519776
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:120788776 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTTCTATCATAATACAGAGCCCAG[A/G]GCAGAGTAATGGTGAGAATCATGGC
Phenotype
MIM: 613138
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
TSPAN12 PubMed Links

Gene Details

Gene
TSPAN12
Gene Name
tetraspanin 12
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_012338.3 615 Missense Mutation CCC,CTC P245L NP_036470.1
XM_005250239.2 615 Missense Mutation CCC,CTC P245L XP_005250296.1
XM_011515993.1 615 Missense Mutation CCC,CTC P245L XP_011514295.1
XM_011515994.1 615 Missense Mutation CCC,CTC P245L XP_011514296.1
XM_017011912.1 615 Missense Mutation CCC,CTC P245L XP_016867401.1
XM_017011913.1 615 Missense Mutation CCC,CTC P220L XP_016867402.1
XM_017011914.1 615 Missense Mutation CCC,CTC P118L XP_016867403.1

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