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CTGTCAGCCAGTGAGGCAGAATACC[A/G]GCGGCAGCAGGTATGAGGCTGGGCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605452 MIM: 613474 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ABCB6 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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ABCB6 - ATP binding cassette subfamily B member 6 (Langereis blood group) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005689.2 | 799 | Intron | NP_005680.1 |
ZFAND2B - zinc finger AN1-type containing 2B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001270998.1 | 799 | Missense Mutation | CAG,CGG | Q,R 240 | NP_001257927.1 | |
NM_001270999.1 | 799 | Missense Mutation | CAG,CGG | Q,R 196 | NP_001257928.1 | |
NM_138802.2 | 799 | Missense Mutation | CAG,CGG | Q,R 240 | NP_620157.1 | |
XM_006712285.1 | 799 | Intron | XP_006712348.1 | |||
XM_006712286.3 | 799 | Intron | XP_006712349.1 | |||
XM_017003368.1 | 799 | Missense Mutation | CAG,CGG | Q,R 240 | XP_016858857.1 |