Product Details

SNP ID

rs140294009

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:6368542 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACCTCCTGCTTCCCCACCAGAGTC[C/T]GCCATGGAGAGGGACCGCTACATGA

Phenotype

MIM: 613491 MIM: 613305 MIM: 601119 MIM: 602921

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ACER1 PubMed Links

Gene Details

Gene

ACER1

Gene Name

alkaline ceramidase 1

There are no transcripts associated with this gene.

Gene

ALKBH7

Gene Name

alkB homolog 7

There are no transcripts associated with this gene.

Gene

CLPP

Gene Name

caseinolytic mitochondrial matrix peptidase proteolytic subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006012.2	789	Silent Mutation	TCC,TCT	S222S	NP_006003.1

Gene

PSPN

Gene Name

persephin

There are no transcripts associated with this gene.

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