Product Details

SNP ID
rs112945971
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.22:39744158 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTAGAAGACAACTGTTGATGGGACA[A/G]AGTCCAGAAGGAAGGTCCGGCCAGA
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 1627 Silent Mutation CTG,TTG L449L NP_689725.2
XM_006724149.3 1627 Silent Mutation CTG,TTG L449L XP_006724212.1
XM_006724150.3 1627 Silent Mutation CTG,TTG L396L XP_006724213.1
XM_006724151.1 1627 Silent Mutation CTG,TTG L336L XP_006724214.1
XM_006724153.3 1627 Intron XP_006724216.1
XM_011529927.2 1627 Silent Mutation CTG,TTG L428L XP_011528229.1
XM_011529928.2 1627 Silent Mutation CTG,TTG L368L XP_011528230.1
XM_011529930.2 1627 Silent Mutation CTG,TTG L185L XP_011528232.1
XM_011529931.2 1627 Intron XP_011528233.1

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