Product Details

SNP ID

hCV57466883

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.1:978935 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTACCACGGCTGGCTTGAGGGGGG[A/T]CCCAGGCCCCGCCCCCTCGGAGGCC

Phenotype

MIM: 615921

Polymorphism

A/T, 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	1813	Missense Mutation	ACC,TCC	T699S	NP_001278295.1
NM_001291367.1	1813	Missense Mutation	ACC,TCC	T605S	NP_001278296.1

Gene

PLEKHN1

Gene Name

pleckstrin homology domain containing N1

There are no transcripts associated with this gene.

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