Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTGCTCACCTATCTGCTGAGGTTTA[A/G]GCAAGTTCAGGTTGCCCATGATTTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 608451 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ETHE1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
ETHE1 - ETHE1, persulfide dioxygenase | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001320867.1 | 480 | Missense Mutation | CCT,CTT | P,L 221 | NP_001307796.1 | |
NM_001320868.1 | 480 | Missense Mutation | CCT,CTT | P,L 109 | NP_001307797.1 | |
NM_001320869.1 | 480 | Missense Mutation | CCT,CTT | P,L 134 | NP_001307798.1 | |
NM_014297.4 | 480 | Missense Mutation | CCT,CTT | P,L 232 | NP_055112.2 | |
XM_005258687.3 | 480 | Missense Mutation | CCT,CTT | P,L 205 | XP_005258744.1 |
PHLDB3 - pleckstrin homology like domain family B member 3 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |