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SNP ID

rs116490711

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:23358372 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTAACACGTGCAGTGTGCCTAGCAC[A/G]GGGTCTGGCACTTGGTAAATACCTG

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		Intron			NP_001264103.1
NM_005864.3		Intron			NP_005855.1
NM_032459.2		Intron			NP_115835.1
XM_005267256.1		Intron			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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