Product Details

SNP ID: rs1042978
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.11:117837820 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AAGACGACTGAAGACCACTGCCCGT[C/G]CTCTTACCCTACGCATCCCTAAATC
Phenotype: MIM: 601814 MIM: 606683
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: FXYD2 PubMed Links

Gene Details

Gene: FXYD2
Gene Name: FXYD domain containing ion transport regulator 2

There are no transcripts associated with this gene.

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	1288	UTR 3			NP_001158303.1
NM_001164832.2	1288	UTR 3			NP_001158304.1
NM_001164836.2	1288	UTR 3			NP_001158308.1
NM_001164837.2	1288	UTR 3			NP_001158309.1
NM_022003.3	1288	UTR 3			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	1288	Intron			NP_001191197.1
NM_001243598.2	1288	Intron			NP_001230527.1

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