Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCAGCGAGGGCTGCCCGGAGTGCTC[A/G]GAAGGCTCCCTGCCCCACCAGGTGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 608587 MIM: 602358 MIM: 604528 MIM: 604260 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GHDC 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
|
GHDC - GH3 domain containing | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001142623.1 | 1803 | UTR 3 | NP_001136095.1 | |||
NM_032484.4 | 1803 | Nonsense Mutation | CGA,TGA | R,* 493 | NP_115873.1 |
HCRT - hypocretin neuropeptide precursor | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
KCNH4 - potassium voltage-gated channel subfamily H member 4 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
STAT5B - signal transducer and activator of transcription 5B | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |