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CGGGGCCCTTACCTTGTGCACCTGA[G/T]GGGGTAGCTCATCCTCCGAGCCCTC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605452 MIM: 612204 | ||||||||||||||||||||
Literature Links: |
ABCB6 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
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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 |
ABCB6 - ATP binding cassette subfamily B member 6 (Langereis blood group) | ||||||
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There are no transcripts associated with this gene. |
ANKZF1 - ankyrin repeat and zinc finger domain containing 1 | ||||||
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There are no transcripts associated with this gene. |
ATG9A - autophagy related 9A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001077198.2 | 2684 | Missense Mutation | CAT,CCT | H,P 834 | NP_001070666.1 | |
NM_024085.4 | 2684 | Missense Mutation | CAT,CCT | H,P 834 | NP_076990.4 |