Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTTCACCAGTTTGGCCCCGGGGCTA[C/T]TGTGGGGCGCTTGCTCCACCTGCAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 600988 MIM: 611219 | ||||||||||||||||||||
Literature Links: |
HDDC3 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
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 |
HDDC3 - HD domain containing 3 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286451.1 | 361 | Missense Mutation | AAT,AGT | N,S 111 | NP_001273380.1 | |
NM_198527.3 | 361 | Missense Mutation | AAT,AGT | N,S 111 | NP_940929.1 |
MAN2A2 - mannosidase alpha class 2A member 2 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
UNC45A - unc-45 myosin chaperone A | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001039675.1 | 361 | Intron | NP_001034764.1 | |||
NM_001323619.1 | 361 | Intron | NP_001310548.1 | |||
NM_001323620.1 | 361 | Intron | NP_001310549.1 | |||
NM_001323621.1 | 361 | Intron | NP_001310550.1 | |||
NM_018671.4 | 361 | Intron | NP_061141.2 | |||
XM_005254963.3 | 361 | Intron | XP_005255020.1 | |||
XM_011521779.2 | 361 | Intron | XP_011520081.1 | |||
XM_011521780.2 | 361 | Intron | XP_011520082.1 | |||
XM_017022407.1 | 361 | Intron | XP_016877896.1 |