Product Details

SNP ID

rs34995393

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:53100778 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTGCCCGCCCACAGGATGTGAACC[G/T]CAGAGACCAACAGAGGAATCCAGGC

Phenotype

MIM: 146735 MIM: 601311

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

IGFBP6 PubMed Links

Gene Details

Gene

IGFBP6

Gene Name

insulin like growth factor binding protein 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002178.2	674	Missense Mutation	CGC,CTC	R134L	NP_002169.1
XM_017019264.1	674	UTR 3			XP_016874753.1

Gene

SOAT2

Gene Name

sterol O-acyltransferase 2

There are no transcripts associated with this gene.

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