Product Details

SNP ID
rs143083792
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:15112518 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCAGGAAAGGAGGAGAACAGCAGC[G/T]GTCTCAAGTACAAGGCTGGCCGGGT
Phenotype
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
KAZN PubMed Links

Gene Details

Gene
KAZN
Gene Name
kazrin, periplakin interacting protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001017999.2 2484 Intron NP_001017999.1
NM_001018000.3 2484 Intron NP_001018000.1
NM_001018001.2 2484 Intron NP_001018001.1
NM_015209.2 2484 Intron NP_056024.1
NM_201628.2 2484 Missense Mutation GGT,TGT G714C NP_963922.2
XM_005245795.4 2484 Missense Mutation GGT,TGT G812C XP_005245852.1
XM_011541074.2 2484 Missense Mutation GGT,TGT G812C XP_011539376.1
XM_011541075.2 2484 Missense Mutation GGT,TGT G708C XP_011539377.1
XM_011541076.2 2484 Missense Mutation GGT,TGT G620C XP_011539378.1
XM_011541077.2 2484 Missense Mutation GGT,TGT G620C XP_011539379.1
XM_011541080.2 2484 Intron XP_011539382.1
XM_011541081.2 2484 Missense Mutation GGT,TGT G355C XP_011539383.1
XM_017000768.1 2484 Intron XP_016856257.1
XM_017000769.1 2484 Intron XP_016856258.1
XM_017000770.1 2484 Intron XP_016856259.1
XM_017000771.1 2484 Intron XP_016856260.1
XM_017000772.1 2484 Intron XP_016856261.1
Gene
TMEM51-AS1
Gene Name
TMEM51 antisense RNA 1
There are no transcripts associated with this gene.

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