Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCCTTCGTAGCGCTTGATGTACACT[A/C]AGTCGATAAAGTCTCGAGGGGAAAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 607051 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
STARD6 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
|
STARD6 - StAR related lipid transfer domain containing 6 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_139171.1 | 493 | Nonsense Mutation | TGA,TTA | *,L 114 | NP_631910.1 | |
XM_011525821.1 | 493 | Nonsense Mutation | TGA,TTA | *,L 114 | XP_011524123.1 | |
XM_017025552.1 | 493 | Nonsense Mutation | TGA,TTA | *,L 55 | XP_016881041.1 | |
XM_017025553.1 | 493 | Nonsense Mutation | TGA,TTA | *,L 55 | XP_016881042.1 | |
XM_017025554.1 | 493 | Nonsense Mutation | TGA,TTA | *,L 32 | XP_016881043.1 |