Product Details

SNP ID

rs2231813

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:23357376 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGCACAGTGGCCCGCAATGCCTG[A/G]CCCAGTGCTGTACCTGCAGCCCTGA

Phenotype

MIM: 609906 MIM: 611461

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EFS PubMed Links

Gene Details

Gene

EFS

Gene Name

embryonal Fyn-associated substrate

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001277174.1	1637	Silent Mutation	GGC,GGT	G343G	NP_001264103.1
NM_005864.3	1637	Silent Mutation	GGC,GGT	G512G	NP_005855.1
NM_032459.2	1637	Silent Mutation	GGC,GGT	G419G	NP_115835.1
XM_005267256.1	1637	Silent Mutation	GGC,GGT	G482G	XP_005267313.1

Gene

SLC22A17

Gene Name

solute carrier family 22 member 17

There are no transcripts associated with this gene.

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