Product Details

SNP ID
rs112521346
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:143356869 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATTTCATGCAAGCTGGGTTGTGAG[C/T]CATCAAATGCAGGCCCAAGATAGGA
Phenotype
MIM: 118425
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CLCN1 PubMed Links

Gene Details

Gene
CLCN1
Gene Name
chloride voltage-gated channel 1
There are no transcripts associated with this gene.

Gene
FAM131B
Gene Name
family with sequence similarity 131 member B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001031690.2 900 Missense Mutation GAC,GGC D255G NP_001026860.2
NM_001278297.1 900 Missense Mutation GAC,GGC D161G NP_001265226.1
NM_014690.4 900 Missense Mutation GAC,GGC D227G NP_055505.3
XM_005250073.3 900 Missense Mutation GAC,GGC D227G XP_005250130.1
XM_006716186.2 900 Missense Mutation GAC,GGC D195G XP_006716249.1

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