Product Details

SNP ID

rs141048897

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:46687204 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAGAGTCGAACCAGCTGGCAGTGG[A/C]CTCTGCAGAGACAAGCGGCCACGTG

Phenotype

MIM: 610307 MIM: 613691

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CERK PubMed Links

Gene Details

Gene

CERK

Gene Name

ceramide kinase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022766.5	1651	Missense Mutation	GGC,GTC	G515V	NP_073603.2
XM_017028909.1	1651	Missense Mutation	GGC,GTC	G478V	XP_016884398.1

Gene

GRAMD4

Gene Name

GRAM domain containing 4

There are no transcripts associated with this gene.

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