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CTATGAATTTGAATGCTGTGTGTGT[C/T]GCGGGGGCCCTGAGAAAGTCCGGAG
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 - 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 |
CUTA - cutA divalent cation tolerance homolog (E. coli) | ||||||
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There are no transcripts associated with this gene. |
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 | 769 | Missense Mutation | CGC,TGC | R,C 238 | NP_002627.1 | |
NM_024165.2 | 769 | Missense Mutation | CGC,TGC | R,C 238 | NP_077084.1 | |
XM_011514662.1 | 769 | Missense Mutation | CGC,TGC | R,C 238 | XP_011512964.1 | |
XM_011514663.1 | 769 | Missense Mutation | CGC,TGC | R,C 238 | XP_011512965.1 | |
XM_011514664.1 | 769 | Missense Mutation | CGC,TGC | R,C 206 | XP_011512966.1 | |
XM_011514665.1 | 769 | Missense Mutation | CGC,TGC | R,C 238 | XP_011512967.1 | |
XM_011514666.1 | 769 | Missense Mutation | CGC,TGC | R,C 238 | XP_011512968.1 | |
XM_011514669.1 | 769 | Missense Mutation | CGC,TGC | R,C 238 | XP_011512971.1 | |
XM_011514670.2 | 769 | Missense Mutation | CGC,TGC | R,C 238 | XP_011512972.1 | |
XM_017010939.1 | 769 | Silent Mutation | GTC,GTT | V,V 8 | XP_016866428.1 |
SYNGAP1 - synaptic Ras GTPase activating protein 1 | ||||||
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There are no transcripts associated with this gene. |