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CAGGCAGCAGGAGGCGCATCGGGGA[C/G]CTCCCTTGCACCTCCAAGTGCTGAC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607929 | ||||||||||||||||||||
Literature Links: |
CCM2 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
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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 |
CCM2 - CCM2 scaffolding protein | ||||||
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There are no transcripts associated with this gene. |
LOC100128364 - uncharacterized LOC100128364 | ||||||
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There are no transcripts associated with this gene. |
NACAD - NAC alpha domain containing | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001146334.1 | 3307 | Missense Mutation | CTC,GTC | L,V 1103 | NP_001139806.1 | |
XM_006715674.3 | 3307 | Intron | XP_006715737.1 |