Product Details

SNP ID
rs116668695
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:39744176 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGGACAGAGTCCAGAAGGAAGGTC[C/T]GGCCAGAATTGGTGATAAGAGATGA
Phenotype
Polymorphism
C/T, 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 1609 Missense Mutation AGA,GGA R443G NP_689725.2
XM_006724149.3 1609 Missense Mutation AGA,GGA R443G XP_006724212.1
XM_006724150.3 1609 Missense Mutation AGA,GGA R390G XP_006724213.1
XM_006724151.1 1609 Missense Mutation AGA,GGA R330G XP_006724214.1
XM_006724153.3 1609 Intron XP_006724216.1
XM_011529927.2 1609 Missense Mutation AGA,GGA R422G XP_011528229.1
XM_011529928.2 1609 Missense Mutation AGA,GGA R362G XP_011528230.1
XM_011529930.2 1609 Missense Mutation AGA,GGA R179G XP_011528232.1
XM_011529931.2 1609 Intron XP_011528233.1

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