Product Details

SNP ID
rs188013688
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:11147191 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCCACGAGGCTCCTGGCTACCACT[C/T]GGTGTCCACCAGACTCCAGAGGTAG
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_001317031.1 669 Intron NP_001303960.1
NM_001317032.1 669 Intron NP_001303961.1
NM_001317033.1 669 Missense Mutation AAG,GAG K139E NP_001303962.1
NM_182513.3 669 Missense Mutation AAG,GAG K196E NP_872319.1
XM_005259753.3 669 Missense Mutation AAG,GAG K150E XP_005259810.1
XM_011527702.1 669 Intron XP_011526004.1

View Full Product Details