Product Details

SNP ID
rs2142469
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:11844234 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCGCAAGAACATGCAGTTCCAGGAC[A/G]TGATTCTCTGCAGGGACAAAGAGAG
Phenotype
MIM: 116810 MIM: 184420
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CTSB PubMed Links

Gene Details

Gene
CTSB
Gene Name
cathepsin B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001317237.1 2376 UTR 3 NP_001304166.1
NM_001908.4 2376 UTR 3 NP_001899.1
NM_147780.3 2376 UTR 3 NP_680090.1
NM_147781.3 2376 UTR 3 NP_680091.1
NM_147782.3 2376 UTR 3 NP_680092.1
NM_147783.3 2376 UTR 3 NP_680093.1
XM_006716244.2 2376 UTR 3 XP_006716307.1
XM_006716245.2 2376 UTR 3 XP_006716308.1
XM_011543812.2 2376 UTR 3 XP_011542114.1
XM_017013097.1 2376 UTR 3 XP_016868586.1
XM_017013098.1 2376 UTR 3 XP_016868587.1
XM_017013099.1 2376 UTR 3 XP_016868588.1
XM_017013100.1 2376 UTR 3 XP_016868589.1
XM_017013101.1 2376 UTR 3 XP_016868590.1
Gene
FDFT1
Gene Name
farnesyl-diphosphate farnesyltransferase 1
There are no transcripts associated with this gene.

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