Product Details

SNP ID
rs200063683
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:117820884 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCGCTTCTTATTGCCCCCACAGC[A/G]GAATCTTCTGCCTTGAAAAGAGAAA
Phenotype
MIM: 601814
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
FXYD2 PubMed Links

Gene Details

Gene
FXYD2
Gene Name
FXYD domain containing ion transport regulator 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001680.4 830 Missense Mutation CGC,TGC R51C NP_001671.2
NM_021603.3 830 Missense Mutation CGC,TGC R49C NP_067614.1
Gene
FXYD6-FXYD2
Gene Name
FXYD6-FXYD2 readthrough
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001204268.1 830 Missense Mutation CGC,TGC R129C NP_001191197.1
NM_001243598.2 830 Missense Mutation CCG,CTG P108L NP_001230527.1

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