Product Details

SNP ID
rs200075926
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:92534562 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCCGTATTCCTGTGAATTGCCTTT[A/T]TGTTATTTCTCCTCAAAATGTATGT
Phenotype
MIM: 602136
Polymorphism
A/T, Transversion 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_032120.3 714 Missense Mutation TTA,TTT L203F NP_115496.2
XM_005250636.4 714 Missense Mutation TTA,TTT L203F XP_005250693.1
XM_006716149.3 714 Missense Mutation TTA,TTT L203F XP_006716212.1
XM_006716150.3 714 Missense Mutation TTA,TTT L203F XP_006716213.1
XM_017012709.1 714 Missense Mutation TTA,TTT L28F XP_016868198.1

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