Product Details

SNP ID
rs144298882
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:44964117 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGTCCAGCTTGTAGAGGTGCTGGT[C/T]TGTGAGCAGGAGGGCCCGGTTCCGG
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 2580 Missense Mutation AAC,GAC N893D NP_149043.2
XM_017012503.1 2580 Missense Mutation AAC,GAC N778D XP_016867992.1
XM_017012504.1 2580 Missense Mutation AAC,GAC N655D XP_016867993.1

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