Product Details

SNP ID

rs140275778

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:67934827 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACGGGCTCTGTGGGTGAGCTCAGT[A/G]TCCGCAGCAGCTTGGCGCCAGTCTT

Phenotype

MIM: 118888 MIM: 606967 MIM: 177015 MIM: 176847 MIM: 604119

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CTRL PubMed Links

Gene Details

Gene

CTRL

Gene Name

chymotrypsin like

There are no transcripts associated with this gene.

Gene

LCAT

Gene Name

lecithin-cholesterol acyltransferase

There are no transcripts associated with this gene.

Gene

PSKH1

Gene Name

protein serine kinase H1

There are no transcripts associated with this gene.

Gene

PSMB10

Gene Name

proteasome subunit beta 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002801.3	808	Missense Mutation	ACA,ATA	T227I	NP_002792.1

Gene

SLC12A4

Gene Name

solute carrier family 12 member 4

There are no transcripts associated with this gene.

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