Product Details

SNP ID

rs6235

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.5:96393194 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

TTCATAAGGGATGTTGAGCTTTGCA[C/G]TTGGGGACTTCTTTGGTGATTGCTT

Phenotype

MIM: 162150

Polymorphism

C/G, 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	2308	Missense Mutation	ACT,AGT	T690S	NP_000430.3
NM_001177875.1	2308	Missense Mutation	ACT,AGT	T643S	NP_001171346.1

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