Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTACTACCACCAGGATATGGCTGTG[C/G]TGGGGTTTCGTCTGTGGCCTATGGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 608801 MIM: 600599 MIM: 611487 | ||||||||||||||||||||
Literature Links: |
GCDH 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 |
GCDH - glutaryl-CoA dehydrogenase | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000159.3 | 424 | Missense Mutation | GCT,GGT | A,G 116 | NP_000150.1 | |
NM_013976.3 | 424 | Missense Mutation | GCT,GGT | A,G 116 | NP_039663.1 | |
XM_006722721.2 | 424 | Missense Mutation | GCT,GGT | A,G 116 | XP_006722784.1 | |
XM_011527899.2 | 424 | Missense Mutation | GCT,GGT | A,G 116 | XP_011526201.1 | |
XM_011527900.2 | 424 | Missense Mutation | GCT,GGT | A,G 116 | XP_011526202.1 | |
XM_017026580.1 | 424 | Missense Mutation | GCT,GGT | A,G 116 | XP_016882069.1 |
KLF1 - Kruppel like factor 1 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
SYCE2 - synaptonemal complex central element protein 2 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |