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ATCTGTGGAACAACATCAAGAAATG[G/T]CAGTGTGTTTATAAGCAGTATGACA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616767 MIM: 612040 | ||||||||||||||||||||
Literature Links: |
CAPNS2 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
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 |
CAPNS2 - calpain small subunit 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_032330.1 | 547 | Missense Mutation | TGG,TGT | W,C 154 | NP_115706.1 |
LPCAT2 - lysophosphatidylcholine acyltransferase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_017839.4 | 547 | Intron | NP_060309.2 | |||
XM_005256006.2 | 547 | Intron | XP_005256063.1 | |||
XM_011523169.2 | 547 | Intron | XP_011521471.1 | |||
XM_017023376.1 | 547 | Intron | XP_016878865.1 |