Product Details

SNP ID

rs486554

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:117213480 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGTGATAGTGAAATCTAAAATTT[G/T]GTACATGTTAAGTGTACTGTATTGG

Phenotype

MIM: 604872 MIM: 600818

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

PCSK7 PubMed Links

Gene Details

Gene

PCSK7

Gene Name

proprotein convertase subtilisin/kexin type 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004716.3		Intron			NP_004707.2
XM_006718940.3		Intron			XP_006719003.1
XM_017018546.1		Intron			XP_016874035.1

Gene

TAGLN

Gene Name

transgelin

There are no transcripts associated with this gene.

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