Product Details

SNP ID
rs200476193
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:11148064 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCCTCGTCGACCTCCTTCTCCTGT[C/T]GCTCCAGATCCGCCTCAATCTCCTT
Phenotype
MIM: 609394
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SPC24 PubMed Links

Gene Details

Gene
SPC24
Gene Name
SPC24, NDC80 kinetochore complex component
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001317031.1 442 Missense Mutation CAA,CGA Q120R NP_001303960.1
NM_001317032.1 442 Missense Mutation CAA,CGA Q120R NP_001303961.1
NM_001317033.1 442 Missense Mutation CAA,CGA Q63R NP_001303962.1
NM_182513.3 442 Missense Mutation CAA,CGA Q120R NP_872319.1
XM_005259753.3 442 Missense Mutation CAA,CGA Q74R XP_005259810.1
XM_011527702.1 442 Missense Mutation CAA,CGA Q120R XP_011526004.1

View Full Product Details