Product Details

SNP ID

rs141019647

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:55259905 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTCTTAAAACTGAATCAATGAGAA[C/T]TCTCAGCTGCTTGAAAATGACAGCT

Phenotype

MIM: 612720

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DHX29 PubMed Links

Gene Details

Gene

DHX29

Gene Name

DEAH-box helicase 29

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_019030.2	3957	Missense Mutation	ATT,GTT	I1334V	NP_061903.2
XM_006714653.2	3957	Missense Mutation	ATT,GTT	I1283V	XP_006714716.1
XM_017009588.1	3957	Missense Mutation	ATT,GTT	I698V	XP_016865077.1

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