Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCAGGACAGGCCAAGGCTCCATATA[C/T]CTTCAGAGGGTACAGCACAAGCAAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 615818 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DNHD1 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
|
DNHD1 - dynein heavy chain domain 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_144666.2 | 2046 | Silent Mutation | TAC,TAT | Y,Y 494 | NP_653267.2 | |
NM_173589.3 | 2046 | Silent Mutation | TAC,TAT | Y,Y 494 | NP_775860.3 |
RRP8 - ribosomal RNA processing 8, methyltransferase, homolog (yeast) | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015324.3 | 2046 | Intron | NP_056139.1 | |||
XM_011519955.2 | 2046 | Intron | XP_011518257.1 | |||
XM_017017423.1 | 2046 | Intron | XP_016872912.1 |