Product Details

SNP ID

rs200618059

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:73425251 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCAAAATTCATCAAAAACTGGAAA[C/T]TCATTGTTTCTTTCATATTCAATTT

Phenotype

MIM: 606286 MIM: 613973

Polymorphism

C/T, Transition 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	1684	Silent Mutation	GAA,GAG	E515E	NP_612450.2
XM_017010232.1	1684	Intron			XP_016865721.1

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