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- SNP ID:
- rs370527611
- Gene
-
ATP7B - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.13: 51944163 - 51944163 on Build GRCh38
- Polymorphism:
- C/T, Transition substitution
- Context Sequence [VIC/FAM]:
CCAAGGGGTGTTCACTGCTGGCCTC[C/T]GCAGTCCCCACCACAGCCAGAACCT
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606882
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Literature Links: |
ATP7B PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
| ATP7B - ATPase copper transporting beta | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_000053.3 | 2725 | Silent Mutation | GCA,GCG | A,A 1063 | NP_000044.2 | |
| NM_001005918.2 | 2725 | Silent Mutation | GCA,GCG | A,A 856 | NP_001005918.1 | |
| NM_001243182.1 | 2725 | Silent Mutation | GCA,GCG | A,A 952 | NP_001230111.1 | |
| XM_005266423.2 | 2725 | Silent Mutation | GCA,GCG | A,A 1031 | XP_005266480.1 | |
| XM_005266424.4 | 2725 | Silent Mutation | GCA,GCG | A,A 1031 | XP_005266481.1 | |
| XM_005266427.2 | 2725 | Silent Mutation | GCA,GCG | A,A 985 | XP_005266484.1 | |
| XM_005266428.1 | 2725 | Silent Mutation | GCA,GCG | A,A 979 | XP_005266485.1 | |
| XM_005266430.4 | 2725 | Silent Mutation | GCA,GCG | A,A 1063 | XP_005266487.1 | |
| XM_005266431.3 | 2725 | Silent Mutation | GCA,GCG | A,A 1051 | XP_005266488.1 | |
| XM_005266432.2 | 2725 | Silent Mutation | GCA,GCG | A,A 901 | XP_005266489.1 | |
| XM_006719837.3 | 2725 | Silent Mutation | GCA,GCG | A,A 1031 | XP_006719900.1 | |
| XM_006719838.1 | 2725 | Silent Mutation | GCA,GCG | A,A 335 | XP_006719901.1 | |
| XM_006719839.1 | 2725 | Intron | XP_006719902.1 | |||
| XM_011535117.2 | 2725 | Silent Mutation | GCA,GCG | A,A 1031 | XP_011533419.1 | |
| XM_011535118.1 | 2725 | Silent Mutation | GCA,GCG | A,A 1018 | XP_011533420.1 | |
| XM_011535119.1 | 2725 | Intron | XP_011533421.1 | |||
| XM_011535122.2 | 2725 | Silent Mutation | GCA,GCG | A,A 619 | XP_011533424.1 | |
| XM_017020627.1 | 2725 | Silent Mutation | GCA,GCG | A,A 1031 | XP_016876116.1 | |
| XM_017020628.1 | 2725 | Silent Mutation | GCA,GCG | A,A 619 | XP_016876117.1 | |
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