Product Details

SNP ID

rs199716895

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:40606425 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACCCCCAAGGAGTCCTCTTCAGGA[A/C]CTCAGAGGTGGGAATGAAAGAGTTC

Phenotype

MIM: 609173

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

KNL1 PubMed Links

Gene Details

Gene

KNL1

Gene Name

kinetochore scaffold 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_144508.4	269	Missense Mutation	GAA,GAC	E36D	NP_653091.3
NM_170589.4	269	Missense Mutation	GAA,GAC	E36D	NP_733468.3
XM_017022432.1	269	UTR 5			XP_016877921.1

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