Product Details

SNP ID
rs4430553
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:66305115 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
CAGAATGGTCAGGAAGAGTTGTTCC[C/T]AGACAATGAGATGAGTCTTCCTCTG
Phenotype
MIM: 614539
Polymorphism
C/T, 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_033647.4 631 Missense Mutation CCA,CTA P191L NP_387467.2
XM_005269234.2 631 Missense Mutation CCA,CTA P191L XP_005269291.1
XM_017020230.1 631 Missense Mutation CCA,CTA P191L XP_016875719.1

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