Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GACCCATCGCTGAGCTTCCCGTCAG[C/T]CCCCAGCTATTGTATGAAATTGGAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 614681 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
HYKK 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
|
HYKK - hydroxylysine kinase | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001013619.3 | 533 | Silent Mutation | AGC,AGT | S,S 140 | NP_001013641.2 | |
NM_001083612.1 | 533 | Silent Mutation | AGC,AGT | S,S 140 | NP_001077081.1 | |
XM_011521231.2 | 533 | Silent Mutation | AGC,AGT | S,S 140 | XP_011519533.1 | |
XM_017021922.1 | 533 | Silent Mutation | AGC,AGT | S,S 140 | XP_016877411.1 |