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TCCAGATTTCCATGAAAGTATTTTT[C/G]TCACTCTCCAACAGGGTACTGTACC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607575 | ||||||||||||||||||||
Literature Links: |
CECR1 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 |
CECR1 - cat eye syndrome chromosome region, candidate 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282225.1 | 1618 | Silent Mutation | GAC,GAG | D,E 489 | NP_001269154.1 | |
NM_001282226.1 | 1618 | Silent Mutation | GAC,GAG | D,E 489 | NP_001269155.1 | |
NM_001282227.1 | 1618 | Silent Mutation | GAC,GAG | D,E 447 | NP_001269156.1 | |
NM_001282228.1 | 1618 | Silent Mutation | GAC,GAG | D,E 447 | NP_001269157.1 | |
NM_001282229.1 | 1618 | Silent Mutation | GAC,GAG | D,E 369 | NP_001269158.1 | |
NM_177405.2 | 1618 | Silent Mutation | GAC,GAG | D,E 248 | NP_803124.1 | |
XM_006724080.3 | 1618 | Missense Mutation | GAC,GAG | D,E 261 | XP_006724143.1 | |
XM_011546133.1 | 1618 | Missense Mutation | GAC,GAG | D,E 489 | XP_011544435.1 |