Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TGTAAAATAACTTCTGGAGCACAAG[C/T]ATCCCACTTCTTACAACCAGGACTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
4 submissions
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 604053 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BPNT1 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
|
BPNT1 - 3'(2'), 5'-bisphosphate nucleotidase 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286149.1 | 918 | Missense Mutation | ACT,GCT | T,A 193 | NP_001273078.1 | |
NM_001286150.1 | 918 | Missense Mutation | ACT,GCT | T,A 212 | NP_001273079.1 | |
NM_001286151.1 | 918 | Missense Mutation | ACT,GCT | T,A 193 | NP_001273080.1 | |
NM_006085.5 | 918 | Missense Mutation | ACT,GCT | T,A 248 | NP_006076.4 | |
XM_005272998.2 | 918 | Missense Mutation | ACT,GCT | T,A 263 | XP_005273055.1 | |
XM_005272999.4 | 918 | Missense Mutation | ACT,GCT | T,A 263 | XP_005273056.1 | |
XM_005273000.4 | 918 | Missense Mutation | ACT,GCT | T,A 248 | XP_005273057.1 | |
XM_005273004.2 | 918 | Missense Mutation | ACT,GCT | T,A 182 | XP_005273061.1 | |
XM_005273005.4 | 918 | Missense Mutation | ACT,GCT | T,A 182 | XP_005273062.1 | |
XM_006711114.3 | 918 | Missense Mutation | ACT,GCT | T,A 227 | XP_006711177.1 | |
XM_011509063.2 | 918 | Missense Mutation | ACT,GCT | T,A 208 | XP_011507365.1 | |
XM_011509064.2 | 918 | Missense Mutation | ACT,GCT | T,A 172 | XP_011507366.1 | |
XM_011509065.2 | 918 | Intron | XP_011507367.1 | |||
XM_017000043.1 | 918 | Missense Mutation | ACT,GCT | T,A 212 | XP_016855532.1 | |
XM_017000044.1 | 918 | Missense Mutation | ACT,GCT | T,A 157 | XP_016855533.1 | |
XM_017000045.1 | 918 | Intron | XP_016855534.1 | |||
XM_017000046.1 | 918 | Missense Mutation | ACT,GCT | T,A 127 | XP_016855535.1 |