Product Details

SNP ID
rs147419024
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:35607436 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCAGAACCTGGATGATGCATTCC[A/G]AGATGAACTGCAGGGAGGGTGAGGA
Phenotype
MIM: 160000
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MB PubMed Links

Gene Details

Gene
MB
Gene Name
myoglobin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005368.2 498 Missense Mutation TCG,TTG S109L NP_005359.1
NM_203377.1 498 Missense Mutation TCG,TTG S109L NP_976311.1
NM_203378.1 498 Missense Mutation TCG,TTG S109L NP_976312.1
XM_005261605.2 498 Missense Mutation TCG,TTG S109L XP_005261662.1

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