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CGGATGGGTTTCCGGGCTGTTGTGA[C/G]CCGCCAGTGCTGTGAGGAGGTGAGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 114220 MIM: 614030 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CAPN1 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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CAPN1 - calpain 1 | ||||||
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There are no transcripts associated with this gene. |
SPDYC - speedy/RINGO cell cycle regulator family member C | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001008778.1 | 891 | Missense Mutation | ACC,AGC | T,S 166 | NP_001008778.1 | |
XM_017017705.1 | 891 | Missense Mutation | ACC,AGC | T,S 147 | XP_016873194.1 | |
XM_017017706.1 | 891 | Missense Mutation | ACC,AGC | T,S 147 | XP_016873195.1 | |
XM_017017707.1 | 891 | Missense Mutation | ACC,AGC | T,S 147 | XP_016873196.1 | |
XM_017017708.1 | 891 | Missense Mutation | ACC,AGC | T,S 147 | XP_016873197.1 | |
XM_017017709.1 | 891 | Missense Mutation | ACC,AGC | T,S 147 | XP_016873198.1 | |
XM_017017710.1 | 891 | Missense Mutation | ACC,AGC | T,S 147 | XP_016873199.1 |