Product Details

SNP ID

rs138433207

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:96393173 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCAGGGCTTCGTAGAAGTTTTCA[G/T]AAGGGATGTTGAGCTTTGCACTTGG

Phenotype

MIM: 162150

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

LOC101929710 PubMed Links

Gene Details

Gene

LOC101929710

Gene Name

uncharacterized LOC101929710

There are no transcripts associated with this gene.

Gene

PCSK1

Gene Name

proprotein convertase subtilisin/kexin type 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000439.4	2329	Missense Mutation	TAT,TCT	Y697S	NP_000430.3
NM_001177875.1	2329	Missense Mutation	TAT,TCT	Y650S	NP_001171346.1

View Full Product Details