Product Details

SNP ID
rs13302979
Assay Type
Functionally tested
NCBI dbSNP Submissions
32
Location
Chr.1:978953 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGGGGGTCCCAGGCCCCGCCCCCT[C/G]GGAGGCCGACCGGGGAGGCTCCAGG
Phenotype
MIM: 615921
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
PERM1 PubMed Links

Gene Details

Gene
PERM1
Gene Name
PPARGC1 and ESRR induced regulator, muscle 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001291366.1 1795 Missense Mutation CAG,GAG Q693E NP_001278295.1
NM_001291367.1 1795 Missense Mutation CAG,GAG Q599E NP_001278296.1
XM_017002583.1 1795 Missense Mutation CAG,GAG Q693E XP_016858072.1
XM_017002584.1 1795 Missense Mutation CAG,GAG Q693E XP_016858073.1
XM_017002585.1 1795 Missense Mutation CAG,GAG Q693E XP_016858074.1
Gene
PLEKHN1
Gene Name
pleckstrin homology domain containing N1
There are no transcripts associated with this gene.

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