Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCCTCTGGTACTGCTACCGCCTGGG[C/G]TCCCAAGACATGCAGGCCCTAGGGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 608947 MIM: 616667 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ASPHD1 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
|
ASPHD1 - aspartate beta-hydroxylase domain containing 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_181718.3 | 443 | Silent Mutation | GGC,GGG | G,G 99 | NP_859069.2 | |
XM_017023107.1 | 443 | Intron | XP_016878596.1 |
KCTD13 - potassium channel tetramerization domain containing 13 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
SEZ6L2 - seizure related 6 homolog like 2 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |