Product Details

SNP ID
rs34079208
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:101055342 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCACTTTCGTCGCTCTCCACAGTCA[C/G]CTGCCGGGTCCACCACTTCTTAACT
Phenotype
MIM: 611549
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
NALCN PubMed Links

Gene Details

Gene
NALCN
Gene Name
sodium leak channel, non-selective
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_052867.2 4500 Missense Mutation CTG,GTG L1724V NP_443099.1
XM_011521067.2 4500 Missense Mutation CTG,GTG L1743V XP_011519369.1
XM_011521068.2 4500 Missense Mutation CTG,GTG L1724V XP_011519370.1
XM_011521069.2 4500 Missense Mutation CTG,GTG L1714V XP_011519371.1
XM_017020534.1 4500 Missense Mutation CTG,GTG L1695V XP_016876023.1
XM_017020535.1 4500 Missense Mutation CTG,GTG L1695V XP_016876024.1
XM_017020536.1 4500 Missense Mutation CTG,GTG L1575V XP_016876025.1
XM_017020537.1 4500 Missense Mutation CTG,GTG L1469V XP_016876026.1
Gene
NALCN-AS1
Gene Name
NALCN antisense RNA 1
There are no transcripts associated with this gene.

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