Product Details

SNP ID

rs201764849

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.16:2178628 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTCGTCCAGGATGCTGCCAGTGCT[C/T]TTTTCCGCCGCCGAGTCGCTGCGGG

Phenotype

MIM: 612184 MIM: 606692

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

CASKIN1 PubMed Links

Additional Information

For this assay, SNP(s) [rs200593605] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

CASKIN1

Gene Name

CASK interacting protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020764.3	4250	Silent Mutation	AAA,AAG	K1406K	NP_065815.1

Gene

TRAF7

Gene Name

TNF receptor associated factor 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032271.2	4250	Intron			NP_115647.2
XM_005255627.4	4250	Intron			XP_005255684.1
XM_011522700.1	4250	Intron			XP_011521002.1

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