Product Details

SNP ID
rs201138603
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:39743971 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGGGTGGAAAACTCCCCCCAGTGA[C/T]TACTAGAAATGTGACTTATATTCTT
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 1814 Missense Mutation AAT,AGT N511S NP_689725.2
XM_006724149.3 1814 Missense Mutation AAT,AGT N511S XP_006724212.1
XM_006724150.3 1814 Missense Mutation AAT,AGT N458S XP_006724213.1
XM_006724151.1 1814 Missense Mutation AAT,AGT N398S XP_006724214.1
XM_006724153.3 1814 Intron XP_006724216.1
XM_011529927.2 1814 Missense Mutation AAT,AGT N490S XP_011528229.1
XM_011529928.2 1814 Missense Mutation AAT,AGT N430S XP_011528230.1
XM_011529930.2 1814 Missense Mutation AAT,AGT N247S XP_011528232.1
XM_011529931.2 1814 Intron XP_011528233.1

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