Product Details

SNP ID

rs56683778

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:112609989 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCTTCCCACTCACCAAAATTGCAC[A/G]CCTGACCACTGAGGGCAGAGAGCTG

Phenotype

MIM: 608298

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CCDC80 PubMed Links

Gene Details

Gene

CCDC80

Gene Name

coiled-coil domain containing 80

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_199511.2	2645	Missense Mutation	GCG,GTG	A805V	NP_955805.1
NM_199512.2	2645	Missense Mutation	GCG,GTG	A805V	NP_955806.1

Gene

LINC01279

Gene Name

long intergenic non-protein coding RNA 1279

There are no transcripts associated with this gene.

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