Product Details

SNP ID
rs111821973
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:138596428 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGCATCACTCACCTGGAGGGCCC[A/G]TCCTTTGGTTTCGATGGGGAGAGTG
Phenotype
MIM: 611700
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SVOPL PubMed Links

Gene Details

Gene
SVOPL
Gene Name
SVOP like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001139456.1 1147 Missense Mutation CGG,TGG R486W NP_001132928.1
NM_174959.3 1147 Missense Mutation CGG,TGG R334W NP_777619.1
XM_005250143.3 1147 Missense Mutation CGG,TGG R486W XP_005250200.1
XM_011515797.2 1147 Missense Mutation CGG,TGG R334W XP_011514099.1
XM_017011746.1 1147 Missense Mutation CGG,TGG R395W XP_016867235.1
XM_017011747.1 1147 Missense Mutation CGG,TGG R334W XP_016867236.1
XM_017011748.1 1147 Missense Mutation CGG,TGG R334W XP_016867237.1

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