Product Details

SNP ID

rs147208569

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:90954146 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCACCTTCTCCTGCTGCCTCATGTC[C/G]TCGTAGATCTGGTTCATGATGAATT

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152638.3	1031	Missense Mutation	GAC,GAG	D199E	NP_689851.1

Gene

EPYC

Gene Name

epiphycan

There are no transcripts associated with this gene.

Gene

LINC00615

Gene Name

long intergenic non-protein coding RNA 615

There are no transcripts associated with this gene.

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