Product Details

SNP ID

rs146480742

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:138776154 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGGAAAGTGAAGAGGAGGAGTCCT[A/G]AGTCTTTTAGTGCCCACTGTACTCA

Phenotype

MIM: 615353

Polymorphism

A/G, 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	459	Missense Mutation	AAG,GAG	K102E	NP_056254.1
XM_011535728.2	459	Missense Mutation	AAG,GAG	K102E	XP_011534030.1

Gene

GVQW2

Gene Name

GVQW motif containing 2

There are no transcripts associated with this gene.

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