Product Details

SNP ID

rs34991012

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:138773780 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTACGTCACTTCCGTAAACAAACG[G/T]AGCTGCGGAGGAGCGGGTCCCGGGA

Phenotype

MIM: 615353

Polymorphism

G/T, Transversion 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	261	Missense Mutation	GAG,TAG	E36*	NP_056254.1
XM_011535728.2	261	Missense Mutation	GAG,TAG	E36*	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	261	Intron			NP_001229669.1

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