Product Details

SNP ID

rs200631845

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:58693747 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCCTTCTGATCTAGCTCTGGCAGG[C/G]TGCCCTGAGCACGCTCAACCCCAAC

Phenotype

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

NPEPL1 PubMed Links

Gene Details

Gene

NPEPL1

Gene Name

aminopeptidase-like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001204872.1	199	Missense Mutation	GCT,GGT	A26G	NP_001191801.1
NM_001204873.1	199	Missense Mutation	GCT,GGT	A6G	NP_001191802.1
NM_024663.3	199	Missense Mutation	GCT,GGT	A54G	NP_078939.3

Gene

STX16-NPEPL1

Gene Name

STX16-NPEPL1 readthrough (NMD candidate)

There are no transcripts associated with this gene.

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