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GCATTTATTTCGGGTCGGGATTCGG[A/G]GTGGCCCATTCCCAGGCAGGCTGCT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605464 MIM: 612205 | ||||||||||||||||||||
Literature Links: |
ABCB8 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 |
ABCB8 - ATP binding cassette subfamily B member 8 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282291.1 | 128 | Missense Mutation | AGT,GGT | S,G 12 | NP_001269220.1 | |
NM_001282292.1 | 128 | Missense Mutation | AGT,GGT | S,G 12 | NP_001269221.1 | |
NM_001282293.1 | 128 | Missense Mutation | GAG,GGG | E,G 28 | NP_001269222.1 | |
NM_007188.4 | 128 | Missense Mutation | AGT,GGT | S,G 12 | NP_009119.2 |
ATG9B - autophagy related 9B | ||||||
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There are no transcripts associated with this gene. |