Product Details

SNP ID
rs11607916
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:119045606 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGAGGTGGGGGTTATAGTTCGTCG[G/T]TCTTCAAAGGCCGCTTCTGTCCTGT
Phenotype
MIM: 601746
Polymorphism
G/T, Transversion 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 3085 Missense Mutation AAC,ACC N996T NP_001124463.1
NM_006389.4 3085 Missense Mutation AAC,ACC N996T NP_006380.1
XM_005271392.3 3085 Missense Mutation AAC,ACC N997T XP_005271449.1
XM_005271393.3 3085 Missense Mutation AAC,ACC N997T XP_005271450.1
XM_005271394.3 3085 Missense Mutation AAC,ACC N997T XP_005271451.1
XM_017017095.1 3085 Missense Mutation AAC,ACC N997T XP_016872584.1
XM_017017096.1 3085 Missense Mutation AAC,ACC N996T XP_016872585.1
XM_017017097.1 3085 Missense Mutation AAC,ACC N996T XP_016872586.1

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