Product Details

SNP ID
rs1256149
Assay Type
Validated
NCBI dbSNP Submissions
NA
Location
Chr.14:64469002 on Build GRCh38
Set Membership
HapMap Validated
Context Sequence [VIC/FAM]
TGTGAATCAAATGTGAGCAATAGCA[C/T]AACTTCTGGAGAGAAAGTGATTTCA
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_004857.3 986 Missense Mutation ACA,ATA T203I 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_001304507.1 986 Intron NP_001291436.1
NM_001304508.1 986 Intron NP_001291437.1
NM_006977.3 986 Intron NP_008908.2
XM_005268051.3 986 Intron XP_005268108.1
XM_006720250.3 986 Intron XP_006720313.1
XM_006720251.3 986 Intron XP_006720314.1
XM_006720252.3 986 Intron XP_006720315.1
XM_011537139.1 986 Intron XP_011535441.1
XM_011537141.2 986 Intron XP_011535443.1
XM_011537143.2 986 Intron XP_011535445.1
XM_011537146.2 986 Intron XP_011535448.1
XM_017021630.1 986 Intron XP_016877119.1
XM_017021631.1 986 Intron XP_016877120.1
XM_017021632.1 986 Intron XP_016877121.1
XM_017021633.1 986 Intron XP_016877122.1
XM_017021634.1 986 Intron XP_016877123.1
XM_017021635.1 986 Intron XP_016877124.1
XM_017021636.1 986 Intron XP_016877125.1
XM_017021637.1 986 Intron XP_016877126.1
XM_017021638.1 986 Intron XP_016877127.1

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