Product Details

SNP ID
rs199506939
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:64482937 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACTCACCTGTCTTAGTTCCAATGT[G/T]GGGCCTCTTCCTACATCCAAAGCAA
Phenotype
MIM: 604983
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
MILR1 PubMed Links

Gene Details

Gene
MILR1
Gene Name
mast cell immunoglobulin like receptor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001085423.1 1224 Intron NP_001078892.1
NM_001291316.1 1224 Intron NP_001278245.1
NM_001291317.1 1224 Intron NP_001278246.1
Gene
POLG2
Gene Name
DNA polymerase gamma 2, accessory subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_007215.3 1224 Silent Mutation CCA,CCC P391P NP_009146.2
XM_006721651.2 1224 Intron XP_006721714.1
XM_017024072.1 1224 Silent Mutation CCA,CCC P391P XP_016879561.1

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