Product Details

SNP ID

rs16943678

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:59565758 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CAAGAGACCTCCAGGAAGAGCGGCT[C/G]TCGGCTGTTTGCATCGCCGATAGAG

Phenotype

MIM: 607570

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

DHX40 PubMed Links

Gene Details

Gene

DHX40

Gene Name

DEAH-box helicase 40

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001166301.1	180	Silent Mutation	CTC,CTG	L29L	NP_001159773.1
NM_024612.4	180	Silent Mutation	CTC,CTG	L29L	NP_078888.4
XM_006722083.2	180	Silent Mutation	CTC,CTG	L29L	XP_006722146.1
XM_011525253.2	180	Silent Mutation	CTC,CTG	L29L	XP_011523555.1
XM_011525254.2	180	UTR 5			XP_011523556.1
XM_017025080.1	180	Silent Mutation	CTC,CTG	L29L	XP_016880569.1
XM_017025081.1	180	UTR 5			XP_016880570.1
XM_017025082.1	180	UTR 5			XP_016880571.1
XM_017025083.1	180	UTR 5			XP_016880572.1

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