Product Details

SNP ID
rs138891090
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:119045811 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGGACCTCCTAACTCCAAAGGCT[C/T]AGTGTCTCCTGGCTCGGATCCTGCT
Phenotype
MIM: 601746
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
HYOU1 PubMed Links

Gene Details

Gene
HYOU1
Gene Name
hypoxia up-regulated 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001130991.2 3006 Missense Mutation AAG,GAG K970E NP_001124463.1
NM_006389.4 3006 Missense Mutation AAG,GAG K970E NP_006380.1
XM_005271392.3 3006 Missense Mutation AAG,GAG K971E XP_005271449.1
XM_005271393.3 3006 Missense Mutation AAG,GAG K971E XP_005271450.1
XM_005271394.3 3006 Missense Mutation AAG,GAG K971E XP_005271451.1
XM_017017095.1 3006 Missense Mutation AAG,GAG K971E XP_016872584.1
XM_017017096.1 3006 Missense Mutation AAG,GAG K970E XP_016872585.1
XM_017017097.1 3006 Missense Mutation AAG,GAG K970E XP_016872586.1

View Full Product Details