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CTGGGACCACACCTGGAAATGGAGC[C/T]GGGGCCAGCCTGCAGGAAAGGAGAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611951 MIM: 190180 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
B9D2 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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B9D2 - B9 protein domain 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_030578.3 | 444 | Missense Mutation | CAG,CGG | Q,R 75 | NP_085055.2 | |
XM_011527349.2 | 444 | Missense Mutation | CAG,CGG | Q,R 75 | XP_011525651.1 | |
XM_011527350.1 | 444 | Missense Mutation | CAG,CGG | Q,R 22 | XP_011525652.1 |
TGFB1 - transforming growth factor beta 1 | ||||||
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There are no transcripts associated with this gene. |
TMEM91 - transmembrane protein 91 | ||||||
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There are no transcripts associated with this gene. |