Product Details

SNP ID
rs201482613
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:92532534 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATGCGGAAGGCATATGTAGTAAAA[A/G]CTACTGAAAATAAAGGTATGGAAAG
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_032120.3 538 Missense Mutation ACT,GCT T145A NP_115496.2
XM_005250636.4 538 Missense Mutation ACT,GCT T145A XP_005250693.1
XM_006716149.3 538 Missense Mutation ACT,GCT T145A XP_006716212.1
XM_006716150.3 538 Missense Mutation ACT,GCT T145A XP_006716213.1
XM_017012709.1 538 UTR 5 XP_016868198.1

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