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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