Product Details

SNP ID

rs75155584

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:92531413 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATGCAGTGCCTTATCTATTTTTAT[A/G]TTGATCTCTGTTCTCCTCACTAATC

Phenotype

MIM: 602136

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PEX1 PubMed Links

Gene Details

Gene

PEX1

Gene Name

peroxisomal biogenesis factor 1

There are no transcripts associated with this gene.

Gene

RBM48

Gene Name

RNA binding motif protein 48

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032120.3		Intron			NP_115496.2
XM_005250636.4		Intron			XP_005250693.1
XM_006716149.3		Intron			XP_006716212.1
XM_006716150.3		Intron			XP_006716213.1
XM_017012709.1		Intron			XP_016868198.1

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