Product Details

SNP ID
rs201596341
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:36981577 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGCAGCCGCTTTAGCTTTGCTCGC[G/T]TGGCTTGCTCGAACGGCAGTTTCTA
Phenotype
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
HEATR5B PubMed Links

Gene Details

Gene
HEATR5B
Gene Name
HEAT repeat containing 5B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_019024.2 6695 Missense Mutation CAA,CAC Q2043H NP_061897.1
XM_006712034.2 6695 Missense Mutation CAA,CAC Q2042H XP_006712097.1
XM_006712035.3 6695 Missense Mutation CAA,CAC Q2031H XP_006712098.1
XM_011532934.2 6695 Missense Mutation CAA,CAC Q2043H XP_011531236.1
XM_011532935.2 6695 Missense Mutation CAA,CAC Q1426H XP_011531237.1
XM_017004378.1 6695 Missense Mutation CAA,CAC Q1954H XP_016859867.1
XM_017004379.1 6695 Missense Mutation CAA,CAC Q1918H XP_016859868.1
XM_017004380.1 6695 Missense Mutation CAA,CAC Q1918H XP_016859869.1

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