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TGCATTTTTAATAGATTCTGGAACT[C/T]GGCTTGCATAGTAGTCATAATTCCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
MIM: 604053 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BPNT1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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BPNT1 - 3'(2'), 5'-bisphosphate nucleotidase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286149.1 | 1066 | Missense Mutation | CAA,CGA | Q,R 242 | NP_001273078.1 | |
NM_001286150.1 | 1066 | Missense Mutation | CAA,CGA | Q,R 261 | NP_001273079.1 | |
NM_001286151.1 | 1066 | Missense Mutation | CAA,CGA | Q,R 242 | NP_001273080.1 | |
NM_006085.5 | 1066 | Missense Mutation | CAA,CGA | Q,R 297 | NP_006076.4 | |
XM_005272998.2 | 1066 | Missense Mutation | CAA,CGA | Q,R 312 | XP_005273055.1 | |
XM_005272999.4 | 1066 | Missense Mutation | CAA,CGA | Q,R 312 | XP_005273056.1 | |
XM_005273000.4 | 1066 | Missense Mutation | CAA,CGA | Q,R 297 | XP_005273057.1 | |
XM_005273004.2 | 1066 | Missense Mutation | CAA,CGA | Q,R 231 | XP_005273061.1 | |
XM_005273005.4 | 1066 | Missense Mutation | CAA,CGA | Q,R 231 | XP_005273062.1 | |
XM_006711114.3 | 1066 | Missense Mutation | CAA,CGA | Q,R 276 | XP_006711177.1 | |
XM_011509063.2 | 1066 | Missense Mutation | CAA,CGA | Q,R 257 | XP_011507365.1 | |
XM_011509064.2 | 1066 | Missense Mutation | CAA,CGA | Q,R 221 | XP_011507366.1 | |
XM_011509065.2 | 1066 | Intron | XP_011507367.1 | |||
XM_017000043.1 | 1066 | Missense Mutation | CAA,CGA | Q,R 261 | XP_016855532.1 | |
XM_017000044.1 | 1066 | Missense Mutation | CAA,CGA | Q,R 206 | XP_016855533.1 | |
XM_017000045.1 | 1066 | Intron | XP_016855534.1 | |||
XM_017000046.1 | 1066 | Missense Mutation | CAA,CGA | Q,R 176 | XP_016855535.1 |