Product Details

SNP ID

rs145082582

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:66304958 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTAAAGAGTGTGAGGTCTCCAGT[A/G]ATGATGTTAATAAATTTTTAACATG

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	474	Missense Mutation	AAT,GAT	N139D	NP_387467.2
XM_005269234.2	474	Missense Mutation	AAT,GAT	N139D	XP_005269291.1
XM_017020230.1	474	Missense Mutation	AAT,GAT	N139D	XP_016875719.1

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