Product Details

SNP ID
rs142730861
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:44964078 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAAGGGGCACGGCCCGCATCACCC[A/G]GTACTGCCGGTCAGGGTCCAGCTTG
Phenotype
MIM: 600642
Polymorphism
A/G, 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 2619 Missense Mutation CGG,TGG R906W NP_149043.2
XM_017012503.1 2619 Missense Mutation CGG,TGG R791W XP_016867992.1
XM_017012504.1 2619 Missense Mutation CGG,TGG R668W XP_016867993.1

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