Product Details

SNP ID

rs34525648

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:25914625 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGGCAGTGGAAGAGATGATTCCTGC[A/G]ATGAGCCCAAATCCCCTTGAGATTC

Phenotype

MIM: 611049

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SLC17A2 PubMed Links

Gene Details

Gene

SLC17A2

Gene Name

solute carrier family 17 member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286123.1	1642	Silent Mutation	ATC,ATT	I419I	NP_001273052.1
NM_001286125.1	1642	Missense Mutation	TCG,TTG	S370L	NP_001273054.1
NM_005835.3	1642	Missense Mutation	TCG,TTG	S370L	NP_005826.1
XM_005248784.2	1642	Silent Mutation	ATC,ATT	I419I	XP_005248841.1
XM_006714949.3	1642	Silent Mutation	ATC,ATT	I419I	XP_006715012.1
XM_006714950.2	1642	Silent Mutation	ATC,ATT	I396I	XP_006715013.1
XM_006714951.1	1642	Missense Mutation	TCG,TTG	S370L	XP_006715014.1
XM_017010159.1	1642	Silent Mutation	ATC,ATT	I396I	XP_016865648.1
XM_017010160.1	1642	Intron			XP_016865649.1

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