Product Details

SNP ID
rs12048768
Assay Type
Functionally tested
NCBI dbSNP Submissions
37
Location
Chr.1:15114594 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
CCCCCAGAGCAGGCTGGAACAGTGC[C/T]GTCTGGAAGGCTACAACAGCCTGGA
Phenotype
Polymorphism
C/T, Transition 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 4560 Intron NP_001017999.1
NM_001018000.3 4560 Intron NP_001018000.1
NM_001018001.2 4560 Intron NP_001018001.1
NM_015209.2 4560 Intron NP_056024.1
NM_201628.2 4560 Missense Mutation CGT,TGT R763C NP_963922.2
XM_005245795.4 4560 Missense Mutation CGT,TGT R861C XP_005245852.1
XM_011541074.2 4560 UTR 3 XP_011539376.1
XM_011541075.2 4560 UTR 3 XP_011539377.1
XM_011541076.2 4560 UTR 3 XP_011539378.1
XM_011541077.2 4560 UTR 3 XP_011539379.1
XM_011541080.2 4560 Intron XP_011539382.1
XM_011541081.2 4560 UTR 3 XP_011539383.1
XM_017000768.1 4560 Intron XP_016856257.1
XM_017000769.1 4560 Intron XP_016856258.1
XM_017000770.1 4560 Intron XP_016856259.1
XM_017000771.1 4560 Intron XP_016856260.1
XM_017000772.1 4560 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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