Product Details

SNP ID

rs201912308

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:138773768 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGCTGTACCTCTTACGTCACTTC[C/T]GTAAACAAACGGAGCTGCGGAGGAG

Phenotype

MIM: 615353

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CCDC28A PubMed Links

Gene Details

Gene

CCDC28A

Gene Name

coiled-coil domain containing 28A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015439.2	249	Missense Mutation	CGT,TGT	R32C	NP_056254.1
XM_011535728.2	249	Missense Mutation	CGT,TGT	R32C	XP_011534030.1

Gene

GVQW2

Gene Name

GVQW motif containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001242740.1	249	Intron			NP_001229669.1

View Full Product Details