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ATTCTGAGGTTCATAATCCCAAAGC[A/G]CATAAATGACTCCTTTATTCATTAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
7 submissions
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Phenotype: |
MIM: 114230 MIM: 602143 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CAPN2 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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CAPN2 - calpain 2 | ||||||
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There are no transcripts associated with this gene. |
TP53BP2 - tumor protein p53 binding protein 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001031685.2 | 3501 | Missense Mutation | GCG,GTG | A,V 1070 | NP_001026855.2 | |
NM_005426.2 | 3501 | Missense Mutation | GCG,GTG | A,V 941 | NP_005417.1 | |
XM_011544268.1 | 3501 | Missense Mutation | GCG,GTG | A,V 1003 | XP_011542570.1 | |
XM_011544269.2 | 3501 | Missense Mutation | GCG,GTG | A,V 941 | XP_011542571.1 | |
XM_017002220.1 | 3501 | Missense Mutation | GCG,GTG | A,V 1003 | XP_016857709.1 |