Product Details

SNP ID
rs144868306
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:113304377 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCAGGCAGCCCAGCCCCACACCCA[C/T]GAGGATGTCTGCAGCCCAGCTCAGG
Phenotype
MIM: 609841 MIM: 609666
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SLC8B1 PubMed Links

Gene Details

Gene
SLC8B1
Gene Name
solute carrier family 8 member B1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
XM_006719607.2 2115 Missense Mutation CTG,TTG L306L XP_006719670.1
XM_011538749.2 2115 Missense Mutation CTG,TTG L501L XP_011537051.1
XM_011538750.2 2115 Missense Mutation CTG,TTG L445L XP_011537052.1
XM_011538752.2 2115 Missense Mutation CTG,TTG L306L XP_011537054.1
XM_017019978.1 2115 Intron XP_016875467.1
Gene
TPCN1
Gene Name
two pore segment channel 1
There are no transcripts associated with this gene.

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