Product Details

SNP ID

rs148146916

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:75517200 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACCATGGGCTTCTCAGAGCAGGGC[C/G]GGCAGCGCCTTCACCCGGAAGAGGC

Phenotype

MIM: 612185 MIM: 608755

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CASKIN2 PubMed Links

Gene Details

Gene

CASKIN2

Gene Name

CASK interacting protein 2

There are no transcripts associated with this gene.

Gene

LLGL2

Gene Name

LLGL2, scribble cell polarity complex component

There are no transcripts associated with this gene.

Gene

TSEN54

Gene Name

tRNA splicing endonuclease subunit 54

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_207346.2	357	Missense Mutation	CGG,GGG	R109G	NP_997229.2
XM_005257229.3	357	Missense Mutation	CGG,GGG	R109G	XP_005257286.1

View Full Product Details