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CCTTGGCCAGGGACATTCCAATGGC[A/G]CGTGGCAATCGCTGTGTCCCCCCTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600529 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AUH 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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AUH - AU RNA binding protein/enoyl-CoA hydratase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001306190.1 | 782 | Silent Mutation | CGC,CGT | R,R 197 | NP_001293119.1 | |
NM_001698.2 | 782 | Silent Mutation | CGC,CGT | R,R 226 | NP_001689.1 | |
XM_005252066.3 | 782 | Silent Mutation | CGC,CGT | R,R 236 | XP_005252123.1 | |
XM_005252067.4 | 782 | Silent Mutation | CGC,CGT | R,R 236 | XP_005252124.1 | |
XM_005252069.4 | 782 | Silent Mutation | CGC,CGT | R,R 236 | XP_005252126.1 | |
XM_005252072.2 | 782 | Intron | XP_005252129.1 | |||
XM_006717150.3 | 782 | Silent Mutation | CGC,CGT | R,R 207 | XP_006717213.1 | |
XM_011518800.2 | 782 | Intron | XP_011517102.1 | |||
XM_011518802.2 | 782 | Silent Mutation | CGC,CGT | R,R 117 | XP_011517104.1 | |
XM_011518803.2 | 782 | Intron | XP_011517105.1 | |||
XM_011518804.2 | 782 | Intron | XP_011517106.1 | |||
XM_017014849.1 | 782 | Silent Mutation | CGC,CGT | R,R 226 | XP_016870338.1 | |
XM_017014850.1 | 782 | Silent Mutation | CGC,CGT | R,R 117 | XP_016870339.1 | |
XM_017014851.1 | 782 | Silent Mutation | CGC,CGT | R,R 117 | XP_016870340.1 |