Product Details

SNP ID
rs147888758
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:122848078 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAACACCCAGGAGGCCCCCGTGAA[A/G]GAGAAGCACGCCCGGCGTATCCTTG
Phenotype
MIM: 605613
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
HIP1R PubMed Links

Gene Details

Gene
HIP1R
Gene Name
huntingtin interacting protein 1 related
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001303097.1 254 Silent Mutation AAA,AAG K47K NP_001290026.1
NM_001303099.1 254 Silent Mutation AAA,AAG K35K NP_001290028.1
NM_003959.2 254 Silent Mutation AAA,AAG K47K NP_003950.1
XM_011538963.1 254 Silent Mutation AAA,AAG K35K XP_011537265.1

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