Product Details

SNP ID
rs201211707
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:73014275 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCCTGTCCCCAGCTCTTTGAAAGC[A/T]TCTGGCTCATCTTTCTGTGAATAAA
Phenotype
MIM: 176710
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
P4HA1 PubMed Links

Gene Details

Gene
P4HA1
Gene Name
prolyl 4-hydroxylase subunit alpha 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000917.3 1504 Missense Mutation GAA,GAT E439D NP_000908.2
NM_001017962.2 1504 Missense Mutation GAA,GAT E439D NP_001017962.1
NM_001142595.1 1504 Missense Mutation GAA,GAT E439D NP_001136067.1
NM_001142596.1 1504 Missense Mutation GAA,GAT E421D NP_001136068.1

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