Product Details

SNP ID
rs201034467
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:36981605 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTTGCTCGAACGGCAGTTTCTAGA[C/T]GCACTTTCAACTCAGGAGCAGCCCC
Phenotype
Polymorphism
C/T, Transition 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 6667 Missense Mutation CAT,CGT H2034R NP_061897.1
XM_006712034.2 6667 Missense Mutation CAT,CGT H2033R XP_006712097.1
XM_006712035.3 6667 Missense Mutation CAT,CGT H2022R XP_006712098.1
XM_011532934.2 6667 Missense Mutation CAT,CGT H2034R XP_011531236.1
XM_011532935.2 6667 Missense Mutation CAT,CGT H1417R XP_011531237.1
XM_017004378.1 6667 Missense Mutation CAT,CGT H1945R XP_016859867.1
XM_017004379.1 6667 Missense Mutation CAT,CGT H1909R XP_016859868.1
XM_017004380.1 6667 Missense Mutation CAT,CGT H1909R XP_016859869.1

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