Product Details

SNP ID

rs112726629

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:89683387 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGCCTAAAAACACCCTAACGGGTC[C/T]TCAGCTTCATCTGAGGATATGCCAC

Phenotype

MIM: 603866 MIM: 170290

Polymorphism

C/T, Transition 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	770	Missense Mutation	AAG,AGG	K214R	NP_001258501.1
NM_001271573.1	770	Missense Mutation	AAG,AGG	K100R	NP_001258502.1
NM_003847.2	770	Missense Mutation	AAG,AGG	K245R	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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