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GTCAAAGCTGGGACCAAGGAACTTT[G/T]GGTTTTAATCATCTAAGGGACAAAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616953 MIM: 603763 MIM: 602881 MIM: 603384 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CUTA 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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CUTA - cutA divalent cation tolerance homolog (E. coli) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001014433.2 | 927 | Missense Mutation | AAA,CAA | K,Q 145 | NP_001014433.1 | |
NM_001014837.1 | 927 | Missense Mutation | AAA,CAA | K,Q 103 | NP_001014837.1 | |
NM_001014838.1 | 927 | Missense Mutation | AAA,CAA | K,Q 103 | NP_001014838.1 | |
NM_001014840.1 | 927 | Missense Mutation | AAA,CAA | K,Q 126 | NP_001014840.1 | |
NM_015921.2 | 927 | Missense Mutation | AAA,CAA | K,Q 103 | NP_057005.1 |
KIFC1 - kinesin family member C1 | ||||||
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There are no transcripts associated with this gene. |
PHF1 - PHD finger protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002636.4 | 927 | Intron | NP_002627.1 | |||
NM_024165.2 | 927 | Intron | NP_077084.1 | |||
XM_011514662.1 | 927 | Intron | XP_011512964.1 | |||
XM_011514663.1 | 927 | Intron | XP_011512965.1 | |||
XM_011514664.1 | 927 | Intron | XP_011512966.1 | |||
XM_011514665.1 | 927 | Intron | XP_011512967.1 | |||
XM_011514666.1 | 927 | Intron | XP_011512968.1 | |||
XM_011514669.1 | 927 | Intron | XP_011512971.1 | |||
XM_011514670.2 | 927 | Intron | XP_011512972.1 | |||
XM_017010939.1 | 927 | Intron | XP_016866428.1 |
SYNGAP1 - synaptic Ras GTPase activating protein 1 | ||||||
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There are no transcripts associated with this gene. |