Product Details

SNP ID
rs201711156
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:33659730 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACTGCATCTCGGCCTCTGAGCTGC[A/G]CCCTGTGTGTGGGGCCCGTGCAGGG
Phenotype
MIM: 603672 MIM: 612478
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ACTL10 PubMed Links

Gene Details

Gene
ACTL10
Gene Name
actin like 10
There are no transcripts associated with this gene.

Gene
C20orf144
Gene Name
chromosome 20 open reading frame 144
There are no transcripts associated with this gene.

Gene
CBFA2T2
Gene Name
CBFA2/RUNX1 translocation partner 2
There are no transcripts associated with this gene.

Gene
NECAB3
Gene Name
N-terminal EF-hand calcium binding protein 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_031231.3 752 Missense Mutation CGC,TGC R216C NP_112508.3
NM_031232.3 752 Missense Mutation CGC,TGC R216C NP_112509.3
XM_005260510.1 752 Missense Mutation CGC,TGC R216C XP_005260567.1
XM_011528991.1 752 Missense Mutation CGC,TGC R55C XP_011527293.1
XM_011528992.2 752 Intron XP_011527294.1
XM_017028015.1 752 Missense Mutation CGC,TGC R55C XP_016883504.1
XM_017028016.1 752 Missense Mutation CGC,TGC R55C XP_016883505.1

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