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- SNP ID:
- rs199872811
- Gene
-
ATP6V0BB4GALT2DPH2IPO13 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.1: 43971422 - 43971422 on Build GRCh38
- Polymorphism:
- C/G, Transversion substitution
- Context Sequence [VIC/FAM]:
TACTCTCCTGCGCCCACGGTACCTG[C/G]ACCTGCTAGTCTCCAGCCCAGCTTT
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
MIM: 603717
MIM: 604013
MIM: 603456
MIM: 610411
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Literature Links: |
ATP6V0B PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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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
|
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AMR
|
| ATP6V0B - ATPase H+ transporting V0 subunit b | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
| B4GALT2 - beta-1,4-galactosyltransferase 2 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
| DPH2 - DPH2 homolog | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001039589.1 | 663 | Intron | NP_001034678.1 | |||
| NM_001319165.1 | 663 | Missense Mutation | CAC,GAC | H,D 98 | NP_001306094.1 | |
| NM_001319166.1 | 663 | Intron | NP_001306095.1 | |||
| NM_001319167.1 | 663 | UTR 5 | NP_001306096.1 | |||
| NM_001319168.1 | 663 | Missense Mutation | CAC,GAC | H,D 98 | NP_001306097.1 | |
| NM_001319169.1 | 663 | Missense Mutation | CAC,GAC | H,D 39 | NP_001306098.1 | |
| NM_001319170.1 | 663 | UTR 5 | NP_001306099.1 | |||
| NM_001319171.1 | 663 | Missense Mutation | CAC,GAC | H,D 26 | NP_001306100.1 | |
| NM_001384.4 | 663 | Missense Mutation | CAC,GAC | H,D 174 | NP_001375.2 | |
| XM_017000502.1 | 663 | Missense Mutation | CAC,GAC | H,D 174 | XP_016855991.1 | |
| XM_017000503.1 | 663 | Missense Mutation | CAC,GAC | H,D 98 | XP_016855992.1 | |
| XM_017000504.1 | 663 | Missense Mutation | CAC,GAC | H,D 47 | XP_016855993.1 | |
| XM_017000505.1 | 663 | Missense Mutation | CAC,GAC | H,D 47 | XP_016855994.1 | |
| XM_017000506.1 | 663 | UTR 5 | XP_016855995.1 | |||
| IPO13 - importin 13 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
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