Product Details

SNP ID
rs201203344
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:66304989 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTAATAAATTTTTAACATGGGTAA[A/G]GGAGGTATCAAACTACAAAAACCTA
Phenotype
MIM: 614539
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
HELB PubMed Links

Gene Details

Gene
HELB
Gene Name
DNA helicase B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_033647.4 505 Missense Mutation AAG,AGG K149R NP_387467.2
XM_005269234.2 505 Missense Mutation AAG,AGG K149R XP_005269291.1
XM_017020230.1 505 Missense Mutation AAG,AGG K149R XP_016875719.1

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