Product Details

SNP ID

rs1395

Assay Type

DME

NCBI dbSNP Submissions

NA

Location

Chr.2:27201768 on Build GRCh38

Set Membership

HapMap DME Validated Inventoried

Context Sequence [VIC/FAM]

ATTAGAGGGAGAGGGTGGCATGCTG[A/G]AGCCCATGCTGGTCACGATGCTCCC

Phenotype

MIM: 604024

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SLC5A6 PubMed Links

Gene Details

Gene

SLC5A6

Gene Name

solute carrier family 5 member 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021095.2	1732	Missense Mutation	TCC,TTC	S481F	NP_066918.2
XM_006712128.1	1732	Missense Mutation	TCC,TTC	S481F	XP_006712191.1
XM_006712129.1	1732	Missense Mutation	TCC,TTC	S481F	XP_006712192.1
XM_006712130.1	1732	Missense Mutation	TCC,TTC	S481F	XP_006712193.1
XM_011533146.2	1732	Missense Mutation	TCC,TTC	S258F	XP_011531448.1
XM_017005216.1	1732	Missense Mutation	TCC,TTC	S272F	XP_016860705.1

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