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TGGATGGTGGCCTACCTGGAGACGC[A/G]GCTGGCTGACTGGATCCACAGCAGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601931 | ||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
BCL2L2 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)
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EAS
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African American - Not Available | YRI (Yoruba)
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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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BCL2L2 - BCL2 like 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001199839.1 | 627 | Missense Mutation | CAG,CGG | Q,R 133 | NP_001186768.1 | |
NM_004050.4 | 627 | Missense Mutation | CAG,CGG | Q,R 133 | NP_004041.1 |
BCL2L2-PABPN1 - BCL2L2-PABPN1 readthrough | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001199864.1 | 627 | Missense Mutation | CAG,CGG | Q,R 133 | NP_001186793.1 |
PPP1R3E - protein phosphatase 1 regulatory subunit 3E | ||||||
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There are no transcripts associated with this gene. |
Set Membership: |
HapMap |