Product Details

SNP ID

rs191706130

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:6309816 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTGACCACAGTGGTGATGAAGAC[C/T]AGGCGGATGAACTGGGACCTGGGGA

Phenotype

MIM: 613491

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ACER1 PubMed Links

Gene Details

Gene

ACER1

Gene Name

alkaline ceramidase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_133492.2	447	Silent Mutation	CTA,CTG	L123L	NP_597999.1
XM_011527673.2	447	Silent Mutation	CTA,CTG	L80L	XP_011525975.1

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