Product Details

SNP ID

rs116446912

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:90964273 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCTAGTGCCTTACGAATATAAGT[C/G]AAATTTTTAACATTGCAGAACGTAT

Phenotype

MIM: 601657

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CCER1 PubMed Links

Gene Details

Gene

CCER1

Gene Name

coiled-coil glutamate rich protein 1

There are no transcripts associated with this gene.

Gene

EPYC

Gene Name

epiphycan

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004950.4	761	Missense Mutation	TTC,TTG	F284L	NP_004941.2
XM_011538008.1	761	Missense Mutation	TTC,TTG	F223L	XP_011536310.1

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