Product Details

SNP ID
rs143175652
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:36988671 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTTTTGTTCTTCACCAAGAGCAAC[C/G]AGTGTTTCAAGAACTTTTATTCCTT
Phenotype
Polymorphism
C/G, 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 6452 Silent Mutation CTC,CTG L1962L NP_061897.1
XM_006712034.2 6452 Silent Mutation CTC,CTG L1961L XP_006712097.1
XM_006712035.3 6452 Silent Mutation CTC,CTG L1950L XP_006712098.1
XM_011532934.2 6452 Silent Mutation CTC,CTG L1962L XP_011531236.1
XM_011532935.2 6452 Silent Mutation CTC,CTG L1345L XP_011531237.1
XM_017004378.1 6452 Silent Mutation CTC,CTG L1873L XP_016859867.1
XM_017004379.1 6452 Silent Mutation CTC,CTG L1837L XP_016859868.1
XM_017004380.1 6452 Silent Mutation CTC,CTG L1837L XP_016859869.1

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