Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTTGGTCCGCCTGGATGCCATGTTT[C/T]GTGCCTTCAAGTCTCTGGATAGAGA
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 | |||
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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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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 | 746 | Missense Mutation | CGT,TGT | R,C 221 | 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 | 746 | Intron | NP_060309.2 | |||
XM_005256006.2 | 746 | Intron | XP_005256063.1 | |||
XM_011523169.2 | 746 | Intron | XP_011521471.1 | |||
XM_017023376.1 | 746 | Intron | XP_016878865.1 |