Product Details

SNP ID

rs139334827

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:62981013 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCATGGAGAGGCAGAGGAAGAGGT[A/G]GCGGAGGGTGGGGCAGCGCAGCAGC

Phenotype

MIM: 607582

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SLC22A6 PubMed Links

Gene Details

Gene

SLC22A6

Gene Name

solute carrier family 22 member 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004790.4	1342	Missense Mutation	CAC,TAC	H337Y	NP_004781.2
NM_153276.2	1342	Missense Mutation	CAC,TAC	H337Y	NP_695008.1
NM_153277.2	1342	Missense Mutation	CAC,TAC	H337Y	NP_695009.1
NM_153278.2	1342	Missense Mutation	CAC,TAC	H337Y	NP_695010.1
XM_017018562.1	1342	Missense Mutation	CAC,TAC	H338Y	XP_016874051.1

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