Product Details

SNP ID
hCV11468498
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:35119413 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACCCTGGGCCTGCTTGTGTTCCTG[G/T]CAGGTGAGTACCCATCCCCCGTCTG
Phenotype
MIM: 604996 MIM: 608303
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
FXYD3 PubMed Links

Gene Details

Gene
FXYD3
Gene Name
FXYD domain containing ion transport regulator 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001136007.1 485 Missense Mutation GCA,TCA A70S NP_001129479.1
NM_001136008.1 485 Missense Mutation GCA,TCA A13S NP_001129480.1
NM_001136009.1 485 Missense Mutation GCA,TCA A13S NP_001129481.1
NM_001136010.1 485 Missense Mutation GCA,TCA A13S NP_001129482.1
NM_001136011.1 485 Missense Mutation GCA,TCA A13S NP_001129483.1
NM_001136012.1 485 Missense Mutation GCA,TCA A13S NP_001129484.1
NM_005971.3 485 Missense Mutation GCA,TCA A13S NP_005962.1
NM_021910.2 485 Missense Mutation GCA,TCA A13S NP_068710.1
Gene
LGI4
Gene Name
leucine rich repeat LGI family member 4
There are no transcripts associated with this gene.

Gene
MIR6887
Gene Name
microRNA 6887
There are no transcripts associated with this gene.

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