Product Details

SNP ID

rs2734732

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:4883300 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TAAAATGCTTGGCCTGCACCAGGGC[A/T]AGGGAGAGGACGACACCAAGGAGGT

Phenotype

MIM: 602871 MIM: 609771

Polymorphism

A/T, 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	5457	UTR 3			NP_002696.3
XM_006720902.3	5457	UTR 3			XP_006720965.1
XM_017023374.1	5457	UTR 3			XP_016878863.1
XM_017023375.1	5457	UTR 3			XP_016878864.1

Gene

UBN1

Gene Name

ubinuclein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001079514.2	5457	Intron			NP_001072982.1
NM_001288656.1	5457	Intron			NP_001275585.1
XM_005255277.3	5457	Intron			XP_005255334.1
XM_005255278.3	5457	Intron			XP_005255335.1
XM_005255279.3	5457	Intron			XP_005255336.1
XM_011522465.1	5457	Intron			XP_011520767.1
XM_011522466.2	5457	Intron			XP_011520768.1
XM_011522467.1	5457	Intron			XP_011520769.1
XM_017023189.1	5457	Intron			XP_016878678.1
XM_017023190.1	5457	Intron			XP_016878679.1
XM_017023191.1	5457	Intron			XP_016878680.1
XM_017023192.1	5457	Intron			XP_016878681.1

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