Product Details

SNP ID

rs199962683

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:75519031 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGAAGAGGTTGGGTTATGTGGTT[C/T]GACGATTCCAACCAAGGTAAATCCC

Phenotype

MIM: 612185 MIM: 608755

Polymorphism

C/T, Transition 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	537	Nonsense Mutation	CGA,TGA	R169*	NP_997229.2
XM_005257229.3	537	Nonsense Mutation	CGA,TGA	R169*	XP_005257286.1

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