Product Details

SNP ID

rs142345157

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:4883402 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGTGCCTACTTCTGCCCAGATAC[C/G]AAGACCGCCAGCTCCTGGATGGACA

Phenotype

MIM: 602871 MIM: 609771

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

PPL PubMed Links

Gene Details

Gene

PPL

Gene Name

periplakin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002705.4	5355	Missense Mutation	TTC,TTG	F1751L	NP_002696.3
XM_006720902.3	5355	Missense Mutation	TTC,TTG	F1764L	XP_006720965.1
XM_017023374.1	5355	Missense Mutation	TTC,TTG	F1780L	XP_016878863.1
XM_017023375.1	5355	Missense Mutation	TTC,TTG	F1767L	XP_016878864.1

Gene

UBN1

Gene Name

ubinuclein 1

There are no transcripts associated with this gene.

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