Product Details

SNP ID
rs147744153
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:64468644 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACGGGGGGCCTGGGCCTCACTCAAA[C/T]GTCTTGTAACACGCAGGAAAAGGTC
Phenotype
MIM: 604688 MIM: 172460 MIM: 194541
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
AKAP5 PubMed Links

Gene Details

Gene
AKAP5
Gene Name
A-kinase anchoring protein 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004857.3 628 Missense Mutation CGT,TGT R84C NP_004848.3
Gene
MTHFD1
Gene Name
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
There are no transcripts associated with this gene.

Gene
ZBTB25
Gene Name
zinc finger and BTB domain containing 25
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001304507.1 628 Intron NP_001291436.1
NM_001304508.1 628 Intron NP_001291437.1
NM_006977.3 628 Intron NP_008908.2
XM_005268051.3 628 Intron XP_005268108.1
XM_006720250.3 628 Intron XP_006720313.1
XM_006720251.3 628 Intron XP_006720314.1
XM_006720252.3 628 Intron XP_006720315.1
XM_011537139.1 628 Intron XP_011535441.1
XM_011537141.2 628 Intron XP_011535443.1
XM_011537143.2 628 Intron XP_011535445.1
XM_011537146.2 628 Intron XP_011535448.1
XM_017021630.1 628 Intron XP_016877119.1
XM_017021631.1 628 Intron XP_016877120.1
XM_017021632.1 628 Intron XP_016877121.1
XM_017021633.1 628 Intron XP_016877122.1
XM_017021634.1 628 Intron XP_016877123.1
XM_017021635.1 628 Intron XP_016877124.1
XM_017021636.1 628 Intron XP_016877125.1
XM_017021637.1 628 Intron XP_016877126.1
XM_017021638.1 628 Intron XP_016877127.1

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