Product Details

SNP ID

rs201898032

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:136922643 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCATCGCCGTGCCCCCCTTCGGTC[G/T]GAGCCTGGCGCGCTCCTTCGCGGGG

Phenotype

MIM: 601757 MIM: 612519

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

PEX7 PubMed Links

Gene Details

Gene

PEX7

Gene Name

peroxisomal biogenesis factor 7

There are no transcripts associated with this gene.

Gene

SLC35D3

Gene Name

solute carrier family 35 member D3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001008783.2	403	Missense Mutation	CGG,CTG	R72L	NP_001008783.1

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