Product Details

SNP ID

rs148095433

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:89683582 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGAGATCGGAATAAAAGAAGTAGA[A/C]AGGATTGGAGCCATTCTGTTTCCTC

Phenotype

MIM: 603866 MIM: 170290

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

PEX11A PubMed Links

Gene Details

Gene

PEX11A

Gene Name

peroxisomal biogenesis factor 11 alpha

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001271572.1	575	Missense Mutation	TGT,TTT	C149F	NP_001258501.1
NM_001271573.1	575	Missense Mutation	TGT,TTT	C35F	NP_001258502.1
NM_003847.2	575	Missense Mutation	TGT,TTT	C180F	NP_003838.1

Gene

PLIN1

Gene Name

perilipin 1

There are no transcripts associated with this gene.

Gene

WDR93

Gene Name

WD repeat domain 93

There are no transcripts associated with this gene.

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