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GCAGGGAAGTCTGGCAGTTATCTTA[C/T]AAGAGAGAGTGATCGGAGGCCAGGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601953 MIM: 139150 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CCNH 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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CCNH - cyclin H | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001199189.1 | 1268 | Intron | NP_001186118.1 | |||
NM_001239.3 | 1268 | Intron | NP_001230.1 | |||
XM_005248627.3 | 1268 | Intron | XP_005248684.1 | |||
XM_005248629.4 | 1268 | Intron | XP_005248686.1 | |||
XM_011543706.2 | 1268 | Intron | XP_011542008.1 | |||
XM_017010014.1 | 1268 | Intron | XP_016865503.1 |
LOC644285 - uncharacterized LOC644285 | ||||||
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There are no transcripts associated with this gene. |
RASA1 - RAS p21 protein activator 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002890.2 | 1268 | Missense Mutation | ACA,ATA | T,I 206 | NP_002881.1 | |
NM_022650.2 | 1268 | Missense Mutation | ACA,ATA | T,I 29 | NP_072179.1 | |
XM_011543525.1 | 1268 | Missense Mutation | ACA,ATA | T,I 206 | XP_011541827.1 | |
XM_011543527.2 | 1268 | Missense Mutation | ACA,ATA | T,I 206 | XP_011541829.1 |