Product Details

SNP ID
rs142328697
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:44964456 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAAAGAGCACAGCCCCGAAGCCAT[C/T]TTTGTCCTGAAGTGTCTTTAGTCGC
Phenotype
MIM: 600642
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MYO1G PubMed Links

Gene Details

Gene
MYO1G
Gene Name
myosin IG
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_033054.2 2493 Missense Mutation AAT,GAT N864D NP_149043.2
XM_017012503.1 2493 Missense Mutation AAT,GAT N749D XP_016867992.1
XM_017012504.1 2493 Missense Mutation AAT,GAT N626D XP_016867993.1

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