Product Details

SNP ID

rs3766245

Assay Type

Functionally Tested

NCBI dbSNP Submissions

4

Location

Chr.1:46560693 on Build GRCh38

Set Membership

JSNP

Context Sequence [VIC/FAM]

TATCATGCTGTAACTTATCCCCTTG[C/T]CTACTTCTCTCCACTAGAGCACAGA

Phenotype

MIM: 611455 MIM: 606724

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

KNCN PubMed Links

Additional Information

For this assay, SNP(s) [rs142862589] are located under a probe 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

KNCN

Gene Name

kinocilin

There are no transcripts associated with this gene.

Gene

MKNK1

Gene Name

MAP kinase interacting serine/threonine kinase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135553.2		Intron			NP_001129025.1
NM_003684.5		Intron			NP_003675.2
NM_198973.3		Intron			NP_945324.1
XM_006711000.1		Intron			XP_006711063.1
XM_006711001.2		Intron			XP_006711064.1
XM_006711002.2		Intron			XP_006711065.1
XM_006711003.1		Intron			XP_006711066.1
XM_006711006.3		Intron			XP_006711069.1
XM_006711007.1		Intron			XP_006711070.1
XM_006711009.3		Intron			XP_006711072.1
XM_006711013.1		Intron			XP_006711076.1
XM_006711014.1		Intron			XP_006711077.1
XM_006711015.1		Intron			XP_006711078.1
XM_017002652.1		Intron			XP_016858141.1
XM_017002653.1		Intron			XP_016858142.1
XM_017002654.1		Intron			XP_016858143.1
XM_017002655.1		Intron			XP_016858144.1
XM_017002656.1		Intron			XP_016858145.1
XM_017002657.1		Intron			XP_016858146.1
XM_017002658.1		Intron			XP_016858147.1
XM_017002659.1		Intron			XP_016858148.1
XM_017002660.1		Intron			XP_016858149.1
XM_017002661.1		Intron			XP_016858150.1
XM_017002662.1		Intron			XP_016858151.1
XM_017002663.1		Intron			XP_016858152.1
XM_017002664.1		Intron			XP_016858153.1
XM_017002665.1		Intron			XP_016858154.1
XM_017002666.1		Intron			XP_016858155.1
XM_017002667.1		Intron			XP_016858156.1
XM_017002668.1		Intron			XP_016858157.1

Gene

MKNK1-AS1

Gene Name

MKNK1 antisense RNA 1

There are no transcripts associated with this gene.

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