Product Details

SNP ID

rs2290517

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:181538660 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AGTTGAATGCTCTGTAAAGGCCTAA[G/T]AAAAGCAAATTACTGAACAAAACAT

Phenotype

MIM: 608381 MIM: 192975

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CERKL PubMed Links

Gene Details

Gene

CERKL

Gene Name

ceramide kinase like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001030311.2	6995	Intron			NP_001025482.1
NM_001030312.2	6995	Intron			NP_001025483.1
NM_001030313.2	6995	Intron			NP_001025484.1
NM_001160277.1	6995	Intron			NP_001153749.1
NM_201548.4	6995	Intron			NP_963842.1

Gene

ITGA4

Gene Name

integrin subunit alpha 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000885.5	6995	UTR 3			NP_000876.3
NM_001316312.1	6995	Intron			NP_001303241.1

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