Product Details

SNP ID

rs181975111

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:55308056 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGATGAGCTGTTCAGCGTGTTCGAG[A/G]GCGACTCGACCACTGCGGCGGGAAC

Phenotype

MIM: 612720

Polymorphism

A/G, 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	309	Intron			NP_061903.2
XM_006714653.2	309	Intron			XP_006714716.1
XM_017009588.1	309	Intron			XP_016865077.1

Gene

SKIV2L2

Gene Name

Ski2 like RNA helicase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015360.4	309	Missense Mutation	AGC,GGC	S15G	NP_056175.3

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