Product Details

SNP ID

rs148980983

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:44683916 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACAACATTCTGAGTTTCTGACCAT[C/T]GTTCCACAATCTCCTTGCAGATATT

Phenotype

MIM: 616934

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CCDC43 PubMed Links

Gene Details

Gene

CCDC43

Gene Name

coiled-coil domain containing 43

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001099225.1	292	Missense Mutation	CAA,CGA	Q83R	NP_001092695.1
NM_144609.2	292	Missense Mutation	CAA,CGA	Q83R	NP_653210.2

Gene

MEIOC

Gene Name

meiosis specific with coiled-coil domain

There are no transcripts associated with this gene.

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