Product Details

SNP ID

rs199817813

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:130341000 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCCTGAGGGGCCTCAGAGGACTCC[A/G]GTTCTGGGGTCTTAGTGGGGCCCTT

Phenotype

MIM: 613734 MIM: 612981

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CCDC115 PubMed Links

Gene Details

Gene

CCDC115

Gene Name

coiled-coil domain containing 115

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321118.1	297	Missense Mutation	CCG,CTG	P108L	NP_001308047.1
NM_001321119.1	297	Missense Mutation	CCG,CTG	P65L	NP_001308048.1
NM_032357.3	297	Missense Mutation	CCG,CTG	P113L	NP_115733.2

Gene

IMP4

Gene Name

IMP4 homolog, U3 small nucleolar ribonucleoprotein

There are no transcripts associated with this gene.

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