Product Details

SNP ID

rs181395905

Assay Type

Functionally tested

NCBI dbSNP Submissions

7

Location

Chr.1:46560252 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATTTACCTCTGGAGGACTTGCGGC[A/G]TGGGGAGTCCCTTTTCTGGAGCTTG

Phenotype

MIM: 611455 MIM: 606724

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KNCN PubMed Links

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	6605	Missense Mutation			NP_001129025.1
NM_003684.5	6605	Missense Mutation			NP_003675.2
NM_198973.3	6605	Intron			NP_945324.1
XM_006711000.1	6605	Missense Mutation			XP_006711063.1
XM_006711001.2	6605	Missense Mutation			XP_006711064.1
XM_006711002.2	6605	Missense Mutation			XP_006711065.1
XM_006711003.1	6605	Missense Mutation			XP_006711066.1
XM_006711006.3	6605	Missense Mutation			XP_006711069.1
XM_006711007.1	6605	Missense Mutation			XP_006711070.1
XM_006711009.3	6605	Missense Mutation			XP_006711072.1
XM_006711013.1	6605	Missense Mutation			XP_006711076.1
XM_006711014.1	6605	Missense Mutation			XP_006711077.1
XM_006711015.1	6605	Missense Mutation			XP_006711078.1
XM_017002652.1	6605	Missense Mutation			XP_016858141.1
XM_017002653.1	6605	Missense Mutation			XP_016858142.1
XM_017002654.1	6605	Missense Mutation			XP_016858143.1
XM_017002655.1	6605	Missense Mutation			XP_016858144.1
XM_017002656.1	6605	Missense Mutation			XP_016858145.1
XM_017002657.1	6605	Missense Mutation			XP_016858146.1
XM_017002658.1	6605	Intron			XP_016858147.1
XM_017002659.1	6605	Intron			XP_016858148.1
XM_017002660.1	6605	Intron			XP_016858149.1
XM_017002661.1	6605	Intron			XP_016858150.1
XM_017002662.1	6605	Intron			XP_016858151.1
XM_017002663.1	6605	Intron			XP_016858152.1
XM_017002664.1	6605	Missense Mutation			XP_016858153.1
XM_017002665.1	6605	Intron			XP_016858154.1
XM_017002666.1	6605	Intron			XP_016858155.1
XM_017002667.1	6605	Intron			XP_016858156.1
XM_017002668.1	6605	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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