Product Details

SNP ID

rs147665669

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:70925874 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCTACAGTTTTGGCTCTAGACTTG[C/T]GTGAGGGTTGGTTACTCTTAATCTC

Phenotype

MIM: 300443

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SLC7A3 PubMed Links

Gene Details

Gene

SLC7A3

Gene Name

solute carrier family 7 member 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001048164.2	1973	Missense Mutation	CAC,CGC	H600R	NP_001041629.1
NM_032803.5	1973	Missense Mutation	CAC,CGC	H600R	NP_116192.4
XM_017029912.1	1973	Missense Mutation	CAC,CGC	H600R	XP_016885401.1

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