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GCCTCCCCGGCCTCGCCGGCGGCCC[C/T]CGCCCCAGCGCCCGCACCGCTGCCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608451 MIM: 194360 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ETHE1 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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ETHE1 - ETHE1, persulfide dioxygenase | ||||||
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There are no transcripts associated with this gene. |
XRCC1 - X-ray repair cross complementing 1 | ||||||
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There are no transcripts associated with this gene. |
ZNF575 - zinc finger protein 575 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_174945.2 | 442 | Missense Mutation | CCG,TCG | P,S 58 | NP_777605.1 | |
XM_005258783.3 | 442 | Missense Mutation | CCG,TCG | P,S 58 | XP_005258840.1 | |
XM_011526793.2 | 442 | Missense Mutation | CCG,TCG | P,S 58 | XP_011525095.1 |