Product Details

SNP ID

rs3820009

Assay Type

Functionally Tested

NCBI dbSNP Submissions

8

Location

Chr.1:2405893 on Build GRCh38

Set Membership

JSNP

Context Sequence [VIC/FAM]

GGGCCACTGGGCCATGCCCATCCCC[A/G]TCGGCATTTCTTTTCCTGTCCACAT

Phenotype

MIM: 602859 MIM: 612836

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

PEX10 PubMed Links

Additional Information

For this assay, SNP(s) [rs75437503] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

PEX10

Gene Name

peroxisomal biogenesis factor 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002617.3		Intron			NP_002608.1
NM_153818.1		Intron			NP_722540.1
XM_011541573.1		Intron			XP_011539875.1
XM_011541576.1		Intron			XP_011539878.1

Gene

PLCH2

Gene Name

phospholipase C eta 2

There are no transcripts associated with this gene.

Gene

RER1

Gene Name

retention in endoplasmic reticulum sorting receptor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_007033.4		Intron			NP_008964.3
XM_005244713.4		Intron			XP_005244770.2
XM_006710306.2		Intron			XP_006710369.1
XM_011540542.1		Intron			XP_011538844.1
XM_011540543.1		Intron			XP_011538845.1
XM_017000131.1		Intron			XP_016855620.1
XM_017000132.1		Intron			XP_016855621.1
XM_017000133.1		Intron			XP_016855622.1
XM_017000134.1		Intron			XP_016855623.1
XM_017000135.1		Intron			XP_016855624.1

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