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CTGAGAGCGGCCCCCTGGGCCACCC[C/T]GGAGTTCCCACTCCACCTCCAGGCC
Species: |
Human | ||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602306 MIM: 601962 MIM: 611439 | ||||||||||||||||||||||||||
Literature Links: |
RGL2 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)
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EAS - Not Available | African American - Not Available | YRI (Yoruba)
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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 |
RGL2 - ral guanine nucleotide dissociation stimulator like 2 | ||||||
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There are no transcripts associated with this gene. |
TAPBP - TAP binding protein (tapasin) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003190.4 | 1211 | Missense Mutation | CAG,CGG | Q,R 333 | NP_003181.3 | |
NM_172208.2 | 1211 | Missense Mutation | CAG,CGG | Q,R 333 | NP_757345.2 | |
NM_172209.2 | 1211 | Missense Mutation | CAG,CGG | Q,R 246 | NP_757346.2 | |
XM_011514828.2 | 1211 | Missense Mutation | CAG,CGG | Q,R 333 | XP_011513130.1 | |
XM_017011227.1 | 1211 | Missense Mutation | CAG,CGG | Q,R 333 | XP_016866716.1 |
ZBTB22 - zinc finger and BTB domain containing 22 | ||||||
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There are no transcripts associated with this gene. |
Set Membership: |
HapMap |