Product Details

SNP ID
rs143785213
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:81191031 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCACCGCTCCTGAAGCTTCCGCTCC[A/G]ACTGCTCCAGCTCGGAGAGCTCGGC
Phenotype
MIM: 613479
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
AATK-AS1 PubMed Links

Gene Details

Gene
AATK-AS1
Gene Name
AATK antisense RNA 1
There are no transcripts associated with this gene.

Gene
CEP131
Gene Name
centrosomal protein 131
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001009811.3 3072 Missense Mutation TCG,TTG S904L NP_001009811.2
NM_001319228.1 3072 Missense Mutation TCG,TTG S943L NP_001306157.1
NM_001319229.1 3072 Missense Mutation TCG,TTG S907L NP_001306158.1
NM_014984.3 3072 Missense Mutation TCG,TTG S940L NP_055799.2
XM_011524547.2 3072 Missense Mutation TCG,TTG S948L XP_011522849.1
XM_011524548.2 3072 Missense Mutation TCG,TTG S945L XP_011522850.1
XM_011524550.2 3072 Missense Mutation TCG,TTG S942L XP_011522852.1
XM_011524551.2 3072 Missense Mutation TCG,TTG S948L XP_011522853.1
XM_011524552.2 3072 Missense Mutation TCG,TTG S912L XP_011522854.1
XM_011524553.2 3072 Missense Mutation TCG,TTG S907L XP_011522855.1
XM_011524555.2 3072 Missense Mutation TCG,TTG S948L XP_011522857.1
XM_017024369.1 3072 Missense Mutation TCG,TTG S943L XP_016879858.1

View Full Product Details