Product Details

SNP ID

rs191924075

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:23347945 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGATGTTGCGGTAGTTGAGGAGG[A/G]AAGCAAAGGAAAAGGAGGATGTTGC

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

There are no transcripts associated with this gene.

Gene

SLC22A17

Gene Name

solute carrier family 22 member 17

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001289050.1	1394	Missense Mutation	TCC,TTC	S79F	NP_001275979.1
NM_016609.4	1394	Missense Mutation	TCC,TTC	S297F	NP_057693.3
NM_020372.3	1394	Missense Mutation	TCC,TTC	S297F	NP_065105.2
XM_005267747.4	1394	Missense Mutation	TCC,TTC	S297F	XP_005267804.1
XM_005267748.4	1394	Intron			XP_005267805.1
XM_017021361.1	1394	Missense Mutation	TCC,TTC	S297F	XP_016876850.1
XM_017021362.1	1394	Missense Mutation	TCC,TTC	S297F	XP_016876851.1

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