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AAACAGTTGGAAAAGGCAAGTGTTC[A/C]TAAGGAAAGACAGGTGGGAGGGTTA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 134636 MIM: 154950 | ||||||||||||||||||||
Literature Links: |
CHURC1-FNTB 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 |
CHURC1-FNTB - CHURC1-FNTB readthrough | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001202558.1 | 418 | Intron | NP_001189487.1 | |||
NM_001202559.1 | 418 | Intron | NP_001189488.1 |
FNTB - farnesyltransferase, CAAX box, beta | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002028.3 | 418 | Intron | NP_002019.1 |
MAX - MYC associated factor X | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001271068.1 | 418 | Intron | NP_001257997.1 | |||
NM_001271069.1 | 418 | Silent Mutation | NP_001257998.1 | |||
NM_001320415.1 | 418 | Intron | NP_001307344.1 | |||
NM_002382.4 | 418 | Intron | NP_002373.3 | |||
NM_145112.2 | 418 | Intron | NP_660087.1 | |||
NM_145113.2 | 418 | Intron | NP_660088.1 | |||
NM_145114.2 | 418 | Intron | NP_660089.1 | |||
NM_197957.3 | 418 | Silent Mutation | NP_932061.1 | |||
XM_011536773.2 | 418 | Intron | XP_011535075.1 | |||
XM_017021312.1 | 418 | Intron | XP_016876801.1 | |||
XM_017021313.1 | 418 | Intron | XP_016876802.1 |