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SNP ID:
rs7417106
Gene
PERM1 PLEKHN1
Gene Name
Set Membership:
-
Chromosome Location:
Chr.1: 976215 - 976215 on Build GRCh38
Polymorphism:
A/G, Transition substitution
Context Sequence [VIC/FAM]:

GCTGTGGCTGCGGCGCCCTTGCCCC[A/G]CCTGCCGGCGGAAGTAGCGGATGGC

Assay ID C__57466871_10
Size
Availability Made To Order
Catalog # 4351379
Price
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Assay Details



Species:

 Human

dbSNP Submissions:

 37 submissions

Phenotype:

 MIM: 615921

Literature Links:

 PERM1 PubMed Links

Allele Nomenclature:

Minor Allele Frequency:
1000Genome Applied Biosystems® HapMap
Global
A (0.29)
(0.71)
Caucasian - Not Available CEPH (CEU) - Not Available
EAS
A (0.08)
(0.92)
African American - Not Available YRI (Yoruba) - Not Available
SAS
A (0.25)
(0.75)
Chinese - Not Available CHB (Han Chinese) - Not Available
AFR
G (0.41)
(0.59)
Japanese - Not Available JPT (Japanese) - Not Available
EUR
A (0.21)
(0.79)
AMR
A (0.20)
(0.80)
PERM1 - PPARGC1 and ESRR induced regulator, muscle 1
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_001291366.1 2048 Missense Mutation GCG,GTG A,V 777 NP_001278295.1
NM_001291367.1 2048 Missense Mutation GCG,GTG A,V 683 NP_001278296.1
XM_017002583.1 2048 Missense Mutation GCG,GTG A,V 777 XP_016858072.1
XM_017002584.1 2048 Missense Mutation GCG,GTG A,V 777 XP_016858073.1
XM_017002585.1 2048 Missense Mutation GCG,GTG A,V 755 XP_016858074.1
PLEKHN1 - pleckstrin homology domain containing N1
There are no transcripts associated with this gene.

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