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CCCCCTGTGCCTTCATGGGCTCAAT[A/G]GCTCCTGGCCATGTTGCTGAGTAAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606137 MIM: 130660 MIM: 614058 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CGREF1 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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CGREF1 - cell growth regulator with EF-hand domain 1 | ||||||
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There are no transcripts associated with this gene. |
EMILIN1 - elastin microfibril interfacer 1 | ||||||
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There are no transcripts associated with this gene. |
KHK - ketohexokinase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000221.2 | 711 | Missense Mutation | ATA,ATG | I,M 63 | NP_000212.1 | |
NM_006488.2 | 711 | Missense Mutation | ATA,ATG | I,M 63 | NP_006479.1 | |
XM_005264294.3 | 711 | Missense Mutation | ATA,ATG | I,M 63 | XP_005264351.1 | |
XM_005264296.3 | 711 | Missense Mutation | ATA,ATG | I,M 63 | XP_005264353.1 | |
XM_005264298.3 | 711 | Intron | XP_005264355.1 | |||
XM_006712008.3 | 711 | Missense Mutation | ATA,ATG | I,M 63 | XP_006712071.1 | |
XM_006712009.3 | 711 | Missense Mutation | ATA,ATG | I,M 63 | XP_006712072.1 | |
XM_006712010.3 | 711 | Missense Mutation | ATA,ATG | I,M 63 | XP_006712073.1 | |
XM_006712011.3 | 711 | Missense Mutation | ATA,ATG | I,M 63 | XP_006712074.1 | |
XM_006712012.3 | 711 | Missense Mutation | ATA,ATG | I,M 63 | XP_006712075.1 | |
XM_006712013.3 | 711 | Missense Mutation | ATA,ATG | I,M 63 | XP_006712076.1 | |
XM_006712014.3 | 711 | Intron | XP_006712077.1 | |||
XM_017004060.1 | 711 | Missense Mutation | ATA,ATG | I,M 63 | XP_016859549.1 | |
XM_017004061.1 | 711 | Missense Mutation | ATA,ATG | I,M 63 | XP_016859550.1 |