Product Details

SNP ID
rs144803190
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:39743830 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGATCTTCATGTAATCTAGCGATC[A/G]CACGTTTTACCTCCCTTAAAAGAAC
Phenotype
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ENTHD1 PubMed Links

Gene Details

Gene
ENTHD1
Gene Name
ENTH domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152512.3 1955 Missense Mutation GCG,GTG A558V NP_689725.2
XM_006724149.3 1955 Missense Mutation GCG,GTG A558V XP_006724212.1
XM_006724150.3 1955 Missense Mutation GCG,GTG A505V XP_006724213.1
XM_006724151.1 1955 Missense Mutation GCG,GTG A445V XP_006724214.1
XM_006724153.3 1955 Intron XP_006724216.1
XM_011529927.2 1955 Missense Mutation GCG,GTG A537V XP_011528229.1
XM_011529928.2 1955 Missense Mutation GCG,GTG A477V XP_011528230.1
XM_011529930.2 1955 Missense Mutation GCG,GTG A294V XP_011528232.1
XM_011529931.2 1955 Intron XP_011528233.1

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