Product Details

SNP ID
rs2230490
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.14:64468652 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
CCTGGGCCTCACTCAAACGTCTTGT[A/C]ACACGCAGGAAAAGGTCAGAGTCTT
Phenotype
MIM: 604688 MIM: 172460 MIM: 194541
Polymorphism
A/C, Transversion 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_004857.3 636 Silent Mutation GTA,GTC V86V 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_001304507.1 636 Intron NP_001291436.1
NM_001304508.1 636 Intron NP_001291437.1
NM_006977.3 636 Intron NP_008908.2
XM_005268051.3 636 Intron XP_005268108.1
XM_006720250.3 636 Intron XP_006720313.1
XM_006720251.3 636 Intron XP_006720314.1
XM_006720252.3 636 Intron XP_006720315.1
XM_011537139.1 636 Intron XP_011535441.1
XM_011537141.2 636 Intron XP_011535443.1
XM_011537143.2 636 Intron XP_011535445.1
XM_011537146.2 636 Intron XP_011535448.1
XM_017021630.1 636 Intron XP_016877119.1
XM_017021631.1 636 Intron XP_016877120.1
XM_017021632.1 636 Intron XP_016877121.1
XM_017021633.1 636 Intron XP_016877122.1
XM_017021634.1 636 Intron XP_016877123.1
XM_017021635.1 636 Intron XP_016877124.1
XM_017021636.1 636 Intron XP_016877125.1
XM_017021637.1 636 Intron XP_016877126.1
XM_017021638.1 636 Intron XP_016877127.1

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