Product Details

SNP ID
rs200087794
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:40129432 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACCCCAGAAAAGCCCCGGTCTTCA[A/G]TGGACACCCCACCAAGACTCTCCAC
Phenotype
MIM: 614801
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MSL1 PubMed Links

Gene Details

Gene
MSL1
Gene Name
male specific lethal 1 homolog
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001012241.1 732 Missense Mutation ATG,GTG M131V NP_001012241.1
XM_005257298.4 732 Missense Mutation ATG,GTG M394V XP_005257355.1
XM_005257299.4 732 Missense Mutation ATG,GTG M394V XP_005257356.3

View Full Product Details