Product Details

SNP ID
rs2230492
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.14:64469008 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
TCAAATGTGAGCAATAGCACAACTT[C/T]TGGAGAGAAAGTGATTTCAGTAGAA
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_004857.3 992 Missense Mutation TCT,TTT S205F 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_001304507.1 992 Intron NP_001291436.1
NM_001304508.1 992 Intron NP_001291437.1
NM_006977.3 992 Intron NP_008908.2
XM_005268051.3 992 Intron XP_005268108.1
XM_006720250.3 992 Intron XP_006720313.1
XM_006720251.3 992 Intron XP_006720314.1
XM_006720252.3 992 Intron XP_006720315.1
XM_011537139.1 992 Intron XP_011535441.1
XM_011537141.2 992 Intron XP_011535443.1
XM_011537143.2 992 Intron XP_011535445.1
XM_011537146.2 992 Intron XP_011535448.1
XM_017021630.1 992 Intron XP_016877119.1
XM_017021631.1 992 Intron XP_016877120.1
XM_017021632.1 992 Intron XP_016877121.1
XM_017021633.1 992 Intron XP_016877122.1
XM_017021634.1 992 Intron XP_016877123.1
XM_017021635.1 992 Intron XP_016877124.1
XM_017021636.1 992 Intron XP_016877125.1
XM_017021637.1 992 Intron XP_016877126.1
XM_017021638.1 992 Intron XP_016877127.1

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