Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ACAGCAGTGAAGCCGCCGGCACCTC[C/T]GCTGCCGCAGATGATGGAAGGGAAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 160993 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DCAKD PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
DCAKD - dephospho-CoA kinase domain containing | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001128631.2 | 75 | Intron | NP_001122103.1 | |||
NM_001288654.2 | 75 | Intron | NP_001275583.1 | |||
NM_001288655.1 | 75 | Intron | NP_001275584.1 | |||
NM_001321326.1 | 75 | Intron | NP_001308255.1 | |||
NM_024819.6 | 75 | Intron | NP_079095.3 | |||
XM_005257688.2 | 75 | Intron | XP_005257745.1 | |||
XM_011525262.2 | 75 | Intron | XP_011523564.1 | |||
XM_017025102.1 | 75 | Intron | XP_016880591.1 | |||
XM_017025103.1 | 75 | Intron | XP_016880592.1 | |||
XM_017025104.1 | 75 | Intron | XP_016880593.1 | |||
XM_017025105.1 | 75 | Intron | XP_016880594.1 | |||
XM_017025106.1 | 75 | Intron | XP_016880595.1 |
NMT1 - N-myristoyltransferase 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_021079.4 | 75 | Missense Mutation | CCG,CTG | P,L 15 | NP_066565.1 | |
XM_011524858.2 | 75 | Missense Mutation | CCG,CTG | P,L 15 | XP_011523160.1 |