Product Details

SNP ID

rs141390590

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:73425497 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGCAGTTTTCACATGATAAGAAGA[G/T]AATTTATCCAGATGTTTTTTGTCTT

Phenotype

MIM: 606286 MIM: 613973

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

DDX43 PubMed Links

Gene Details

Gene

DDX43

Gene Name

DEAD-box helicase 43

There are no transcripts associated with this gene.

Gene

MB21D1

Gene Name

Mab-21 domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138441.2	1448	Missense Mutation	TTA,TTC	L433F	NP_612450.2
XM_017010232.1	1448	Missense Mutation	TTA,TTC	L433F	XP_016865721.1

View Full Product Details