Product Details

SNP ID
rs111250132
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:138596464 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCGATGGGGAGAGTGAATGCAGAAA[C/T]GGCGCATACAACACAGACAGATGAG
Phenotype
MIM: 611700
Polymorphism
C/T, 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 1111 Missense Mutation ATT,GTT I474V NP_001132928.1
NM_174959.3 1111 Missense Mutation ATT,GTT I322V NP_777619.1
XM_005250143.3 1111 Missense Mutation ATT,GTT I474V XP_005250200.1
XM_011515797.2 1111 Missense Mutation ATT,GTT I322V XP_011514099.1
XM_017011746.1 1111 Missense Mutation ATT,GTT I383V XP_016867235.1
XM_017011747.1 1111 Missense Mutation ATT,GTT I322V XP_016867236.1
XM_017011748.1 1111 Missense Mutation ATT,GTT I322V XP_016867237.1

View Full Product Details