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TGGCCTGCAGGGCTTTGATGGCATC[A/G]TGTGAGAGCAGGTGCCGGCTCCTCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606137 MIM: 614058 | ||||||||||||||||||||
Literature Links: |
CGREF1 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 |
CGREF1 - cell growth regulator with EF-hand domain 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001166239.1 | 869 | Intron | NP_001159711.1 | |||
NM_001166240.1 | 869 | UTR 3 | NP_001159712.1 | |||
NM_001301324.1 | 869 | UTR 3 | NP_001288253.1 | |||
NM_006569.5 | 869 | Intron | NP_006560.3 |
KHK - ketohexokinase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000221.2 | 869 | Missense Mutation | ATG,GTG | M,V 298 | NP_000212.1 | |
NM_006488.2 | 869 | Missense Mutation | ATG,GTG | M,V 298 | NP_006479.1 | |
XM_005264294.3 | 869 | Missense Mutation | ATG,GTG | M,V 344 | XP_005264351.1 | |
XM_005264296.3 | 869 | Missense Mutation | ATG,GTG | M,V 299 | XP_005264353.1 | |
XM_005264298.3 | 869 | Missense Mutation | ATG,GTG | M,V 214 | XP_005264355.1 | |
XM_006712008.3 | 869 | Intron | XP_006712071.1 | |||
XM_006712009.3 | 869 | Intron | XP_006712072.1 | |||
XM_006712010.3 | 869 | Intron | XP_006712073.1 | |||
XM_006712011.3 | 869 | Intron | XP_006712074.1 | |||
XM_006712012.3 | 869 | Intron | XP_006712075.1 | |||
XM_006712013.3 | 869 | Intron | XP_006712076.1 | |||
XM_006712014.3 | 869 | Intron | XP_006712077.1 | |||
XM_017004060.1 | 869 | Missense Mutation | ATG,GTG | M,V 343 | XP_016859549.1 | |
XM_017004061.1 | 869 | Missense Mutation | ATG,GTG | M,V 253 | XP_016859550.1 |