Product Details

SNP ID
rs147351218
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.7:56068524 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCATGGTCCAACTGCAGGGTGGGA[C/G]ATTCCTGATGGGAACAAATTCTCCA
Phenotype
MIM: 104613 MIM: 607940
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
CCT6A PubMed Links
Additional Information
For this assay, SNP(s) [rs7808729] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene
CCT6A
Gene Name
chaperonin containing TCP1 subunit 6A
There are no transcripts associated with this gene.

Gene
SNORA15
Gene Name
small nucleolar RNA, H/ACA box 15
There are no transcripts associated with this gene.

Gene
SUMF2
Gene Name
sulfatase modifying factor 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001042469.1 198 Missense Mutation ACA,AGA T56R NP_001035934.2
NM_001042470.1 198 Missense Mutation ACA,AGA T56R NP_001035935.2
NM_001130069.2 198 Missense Mutation ACA,AGA T56R NP_001123541.1
NM_001146333.1 198 Intron NP_001139805.1
NM_015411.2 198 Missense Mutation ACA,AGA T56R NP_056226.2
XM_011515254.2 198 Missense Mutation ACA,AGA T56R XP_011513556.1
XM_017011939.1 198 Missense Mutation ACA,AGA T56R XP_016867428.1
XM_017011940.1 198 Missense Mutation ACA,AGA T56R XP_016867429.1

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