Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AGTGAGGCGGACTCCCCGAGCTCCT[C/G]TGAGGAGGAACCGGAGGTCTGCGAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 602408 MIM: 190120 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NR1D1 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
|
NR1D1 - nuclear receptor subfamily 1 group D member 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_021724.4 | 1993 | Intron | NP_068370.1 |
THRA - thyroid hormone receptor, alpha | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001190918.1 | 1993 | Missense Mutation | TCT,TGT | S,C 434 | NP_001177847.1 | |
NM_001190919.1 | 1993 | Missense Mutation | TCT,TGT | S,C 473 | NP_001177848.1 | |
NM_003250.5 | 1993 | Missense Mutation | TCT,TGT | S,C 473 | NP_003241.2 | |
NM_199334.3 | 1993 | Intron | NP_955366.1 |