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CCTATGCCCCTAGAGCGTTTTGGGC[A/G]CCGCTTCCCCCTTGCCCCAGGGAGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
6 submissions
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Phenotype: |
MIM: 603717 MIM: 604013 MIM: 603456 MIM: 610411 | ||||||||||||||||||||
Literature Links: |
ATP6V0B 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 |
ATP6V0B - ATPase H+ transporting V0 subunit b | ||||||
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There are no transcripts associated with this gene. |
B4GALT2 - beta-1,4-galactosyltransferase 2 | ||||||
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There are no transcripts associated with this gene. |
DPH2 - DPH2 homolog | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001039589.1 | 745 | Intron | NP_001034678.1 | |||
NM_001319165.1 | 745 | Missense Mutation | CAC,CGC | H,R 125 | NP_001306094.1 | |
NM_001319166.1 | 745 | Intron | NP_001306095.1 | |||
NM_001319167.1 | 745 | Missense Mutation | CAC,CGC | H,R 8 | NP_001306096.1 | |
NM_001319168.1 | 745 | Missense Mutation | CAC,CGC | H,R 125 | NP_001306097.1 | |
NM_001319169.1 | 745 | Missense Mutation | CAC,CGC | H,R 66 | NP_001306098.1 | |
NM_001319170.1 | 745 | Missense Mutation | CAC,CGC | H,R 8 | NP_001306099.1 | |
NM_001319171.1 | 745 | Missense Mutation | CAC,CGC | H,R 53 | NP_001306100.1 | |
NM_001384.4 | 745 | Missense Mutation | CAC,CGC | H,R 201 | NP_001375.2 | |
XM_017000502.1 | 745 | Missense Mutation | CAC,CGC | H,R 201 | XP_016855991.1 | |
XM_017000503.1 | 745 | Missense Mutation | CAC,CGC | H,R 125 | XP_016855992.1 | |
XM_017000504.1 | 745 | Missense Mutation | CAC,CGC | H,R 74 | XP_016855993.1 | |
XM_017000505.1 | 745 | Missense Mutation | CAC,CGC | H,R 74 | XP_016855994.1 | |
XM_017000506.1 | 745 | Missense Mutation | CAC,CGC | H,R 8 | XP_016855995.1 |
IPO13 - importin 13 | ||||||
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There are no transcripts associated with this gene. |