Product Details

SNP ID

rs199651519

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:75501817 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTGAGGAGGGCAGCAGGGGCGGCC[A/G]GGGGTTCTGTCTCCCCATTCCACCG

Phenotype

MIM: 612185

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CASKIN2 PubMed Links

Gene Details

Gene

CASKIN2

Gene Name

CASK interacting protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142643.2	3844	Missense Mutation	CCG,CTG	P1004L	NP_001136115.1
NM_020753.4	3844	Missense Mutation	CCG,CTG	P1086L	NP_065804.2

Gene

MIR6785

Gene Name

microRNA 6785

There are no transcripts associated with this gene.

Gene

TMEM94

Gene Name

transmembrane protein 94

There are no transcripts associated with this gene.

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