Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TTCATATTTCTTGAGCCGGTCCACT[A/G]TCTTCTGGGCGCCATACAGATCCAC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 600890 | ||||||||||||||||||||
Literature Links: |
GAREM2 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 |
GAREM2 - GRB2 associated regulator of MAPK1 subtype 2 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001168241.1 | 2316 | Intron | NP_001161713.1 | |||
NM_001191033.1 | 2316 | Intron | NP_001177962.1 | |||
XM_006711951.3 | 2316 | Intron | XP_006712014.1 | |||
XM_011532564.2 | 2316 | Intron | XP_011530866.1 | |||
XM_011532565.2 | 2316 | Intron | XP_011530867.1 | |||
XM_011532566.2 | 2316 | Intron | XP_011530868.1 | |||
XM_011532567.2 | 2316 | Intron | XP_011530869.1 |
HADHA - hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000182.4 | 2316 | Missense Mutation | ACA,ATA | T,I 729 | NP_000173.2 |