Product Details

SNP ID

rs182902052

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:117839829 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTTCTCTGCTTTCTGGGGCTCTGT[C/T]GCTGGAAAGAAAACCAGAATGGATT

Phenotype

MIM: 606683

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FXYD6 PubMed Links

Gene Details

Gene

FXYD6

Gene Name

FXYD domain containing ion transport regulator 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001164831.2	656	Silent Mutation	GCA,GCG	A87A	NP_001158303.1
NM_001164832.2	656	Silent Mutation	GCA,GCG	A87A	NP_001158304.1
NM_001164836.2	656	Silent Mutation	GCA,GCG	A87A	NP_001158308.1
NM_001164837.2	656	Silent Mutation	GCA,GCG	A87A	NP_001158309.1
NM_022003.3	656	Silent Mutation	GCA,GCG	A87A	NP_071286.1

Gene

FXYD6-FXYD2

Gene Name

FXYD6-FXYD2 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001204268.1	656	Missense Mutation	AAC,GAC	N71D	NP_001191197.1
NM_001243598.2	656	Missense Mutation	CAA,CGA	Q75R	NP_001230527.1

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