Product Details

SNP ID

rs116293002

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:177524913 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTGATGTCAGGCTGCTGCTCTGAG[A/G]AGCCACTGAGGTTTGAGGGGGGTAG

Phenotype

MIM: 608170 MIM: 615813

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DDX41 PubMed Links

Gene Details

Gene

DDX41

Gene Name

DEAD-box helicase 41

There are no transcripts associated with this gene.

Gene

FAM193B

Gene Name

family with sequence similarity 193 member B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001190946.2	2400	Missense Mutation	TCC,TTC	S523F	NP_001177875.1
XM_006714875.2	2400	Missense Mutation	TCC,TTC	S603F	XP_006714938.1
XM_006714876.1	2400	Missense Mutation	TCC,TTC	S490F	XP_006714939.1
XM_006714878.1	2400	Missense Mutation	TCC,TTC	S490F	XP_006714941.1
XM_006714879.3	2400	Missense Mutation	TCC,TTC	S490F	XP_006714942.1
XM_006714880.1	2400	Missense Mutation	TCC,TTC	S490F	XP_006714943.1
XM_006714884.1	2400	Missense Mutation	TCC,TTC	S149F	XP_006714947.1
XM_006714885.1	2400	Missense Mutation	TCC,TTC	S149F	XP_006714948.1
XM_006714886.2	2400	Intron			XP_006714949.1
XM_011534572.1	2400	Missense Mutation	TCC,TTC	S568F	XP_011532874.1
XM_011534573.1	2400	Missense Mutation	TCC,TTC	S559F	XP_011532875.1
XM_011534574.1	2400	Missense Mutation	TCC,TTC	S525F	XP_011532876.1
XM_011534579.2	2400	Missense Mutation	TCC,TTC	S498F	XP_011532881.1
XM_011534580.1	2400	Missense Mutation	TCC,TTC	S490F	XP_011532882.1
XM_011534581.1	2400	Missense Mutation	TCC,TTC	S287F	XP_011532883.1
XM_011534582.1	2400	Missense Mutation	TCC,TTC	S149F	XP_011532884.1
XM_011534583.1	2400	Missense Mutation	TCC,TTC	S149F	XP_011532885.1

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