Product Details

SNP ID
rs1358577
Assay Type
Functionally tested
NCBI dbSNP Submissions
46
Location
Chr.1:13893691 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
ATGGAATCCACGCTGGCGACATCCA[A/G]TTCTGCCACAGGCCCCGTCACCTTC
Phenotype
Polymorphism
A/G, 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_001017999.2 298 Intron NP_001017999.1
NM_001018000.3 298 Intron NP_001018000.1
NM_001018001.2 298 Intron NP_001018001.1
NM_015209.2 298 Intron NP_056024.1
NM_201628.2 298 Intron NP_963922.2
XM_005245795.4 298 Missense Mutation AAT,AGT N19S XP_005245852.1
XM_011541074.2 298 Missense Mutation AAT,AGT N19S XP_011539376.1
XM_011541075.2 298 Intron XP_011539377.1
XM_011541076.2 298 Intron XP_011539378.1
XM_011541077.2 298 Intron XP_011539379.1
XM_011541080.2 298 Missense Mutation AAT,AGT N19S XP_011539382.1
XM_011541081.2 298 Intron XP_011539383.1
XM_017000768.1 298 Missense Mutation AAT,AGT N19S XP_016856257.1
XM_017000769.1 298 Missense Mutation AAT,AGT N19S XP_016856258.1
XM_017000770.1 298 Missense Mutation AAT,AGT N19S XP_016856259.1
XM_017000771.1 298 Intron XP_016856260.1
XM_017000772.1 298 Intron XP_016856261.1

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