Product Details

SNP ID

rs201032780

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:138773778 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCTTACGTCACTTCCGTAAACAAA[C/T]GGAGCTGCGGAGGAGCGGGTCCCGG

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	259	Missense Mutation	ACG,ATG	T35M	NP_056254.1
XM_011535728.2	259	Missense Mutation	ACG,ATG	T35M	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	259	Intron			NP_001229669.1

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