Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCCGTACACTCAGGCCCTTACGCCA[A/G]CCACTGCCCTAGACCTGGTCCGCCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 603503 MIM: 609277 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DPM1 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
|
DPM1 - dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001317034.1 | 519 | Intron | NP_001303963.1 | |||
NM_001317035.1 | 519 | Intron | NP_001303964.1 | |||
NM_001317036.1 | 519 | Intron | NP_001303965.1 | |||
NM_003859.2 | 519 | Intron | NP_003850.1 | |||
XM_011529093.2 | 519 | Intron | XP_011527395.1 |
MOCS3 - molybdenum cofactor synthesis 3 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_014484.4 | 519 | Missense Mutation | ACC,GCC | T,A 164 | NP_055299.1 |