Product Details

SNP ID

rs201904128

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:58698705 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTAGTGCTTAGCGAATGCCACAGAC[A/G]GCGTGCGGCTAGCAGCCCGCATCGT

Phenotype

Polymorphism

A/G, Transition 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	567	Missense Mutation	AGC,GGC	S149G	NP_001191801.1
NM_001204873.1	567	Missense Mutation	AGC,GGC	S129G	NP_001191802.1
NM_024663.3	567	Missense Mutation	AGC,GGC	S177G	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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