Product Details

SNP ID
rs138067674
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:64469265 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGTACCCTAGAAAGTGCACCAAAT[A/G]GAAAAGACTATGAAAGTACAGAGAT
Phenotype
MIM: 604688 MIM: 172460 MIM: 194541
Polymorphism
A/G, 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 1249 Missense Mutation AGA,GGA R291G 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 1249 Intron NP_001291436.1
NM_001304508.1 1249 Intron NP_001291437.1
NM_006977.3 1249 Intron NP_008908.2
XM_005268051.3 1249 Intron XP_005268108.1
XM_006720250.3 1249 Intron XP_006720313.1
XM_006720251.3 1249 Intron XP_006720314.1
XM_006720252.3 1249 Intron XP_006720315.1
XM_011537139.1 1249 Intron XP_011535441.1
XM_011537141.2 1249 Intron XP_011535443.1
XM_011537143.2 1249 Intron XP_011535445.1
XM_011537146.2 1249 Intron XP_011535448.1
XM_017021630.1 1249 Intron XP_016877119.1
XM_017021631.1 1249 Intron XP_016877120.1
XM_017021632.1 1249 Intron XP_016877121.1
XM_017021633.1 1249 Intron XP_016877122.1
XM_017021634.1 1249 Intron XP_016877123.1
XM_017021635.1 1249 Intron XP_016877124.1
XM_017021636.1 1249 Intron XP_016877125.1
XM_017021637.1 1249 Intron XP_016877126.1
XM_017021638.1 1249 Intron XP_016877127.1

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