Product Details

SNP ID
rs150679420
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.8:144394000 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACGTGGGCACCCACGTGGAAGTCTG[C/T]CCGACGCAGCAGGCGCATGCCCCCG
Phenotype
MIM: 606027
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
ADCK5 PubMed Links

Gene Details

Gene
ADCK5
Gene Name
aarF domain containing kinase 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_174922.4 3923 Intron NP_777582.4
XM_006716527.2 3923 Intron XP_006716590.1
XM_011516907.2 3923 Intron XP_011515209.1
XM_011516909.1 3923 Intron XP_011515211.1
XM_011516910.1 3923 Intron XP_011515212.1
XM_017013174.1 3923 Intron XP_016868663.1
Gene
CPSF1
Gene Name
cleavage and polyadenylation specific factor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_013291.2 3923 Missense Mutation ACA,GCA T1300A NP_037423.2
XM_006716548.2 3923 Missense Mutation ACA,GCA T1297A XP_006716611.1
XM_006716549.2 3923 Missense Mutation ACA,GCA T1222A XP_006716612.1
XM_006716550.3 3923 Missense Mutation ACA,GCA T642A XP_006716613.1
XM_011516997.1 3923 Missense Mutation ACA,GCA T1222A XP_011515299.1
XM_011516998.1 3923 Missense Mutation ACA,GCA T1222A XP_011515300.1
XM_011516999.1 3923 Missense Mutation ACA,GCA T1222A XP_011515301.1
Gene
MIR1234
Gene Name
microRNA 1234
There are no transcripts associated with this gene.

Gene
MIR6849
Gene Name
microRNA 6849
There are no transcripts associated with this gene.

Gene
MIR939
Gene Name
microRNA 939
There are no transcripts associated with this gene.

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