Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GAGGAAACTGCCGCCGCTCTGCCAC[C/G]GTCTGCCCACCCAACGCGAAGACGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 612385 MIM: 616715 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MED19 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
|
MED19 - mediator complex subunit 19 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001317078.1 | 238 | Intron | NP_001304007.1 | |||
NM_153450.2 | 238 | Intron | NP_703151.2 |
TMX2 - thioredoxin related transmembrane protein 2 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001144012.2 | 238 | Missense Mutation | CGT,GGT | R,G 48 | NP_001137484.1 | |
NM_015959.3 | 238 | Missense Mutation | CGT,GGT | R,G 48 | NP_057043.1 |
TMX2-CTNND1 - TMX2-CTNND1 readthrough (NMD candidate) | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |