Product Details

SNP ID
rs199615568
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:50891431 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAGGCCTGTTGGCTGCTCAGTTTAA[C/T]TCCGGCTAAGCTGCCATGCATGGGC
Phenotype
MIM: 611386
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ADNP PubMed Links

Gene Details

Gene
ADNP
Gene Name
activity dependent neuroprotector homeobox
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282531.1 4518 Missense Mutation ATT,GTT I1095V NP_001269460.1
NM_001282532.1 4518 Missense Mutation ATT,GTT I1095V NP_001269461.1
NM_015339.3 4518 Missense Mutation ATT,GTT I1095V NP_056154.1
NM_181442.2 4518 Missense Mutation ATT,GTT I1095V NP_852107.1
XM_011528747.2 4518 Missense Mutation ATT,GTT I1095V XP_011527049.1
XM_011528748.2 4518 Missense Mutation ATT,GTT I1104V XP_011527050.1
XM_017027757.1 4518 Missense Mutation ATT,GTT I1095V XP_016883246.1
XM_017027758.1 4518 Missense Mutation ATT,GTT I1095V XP_016883247.1
XM_017027759.1 4518 Missense Mutation ATT,GTT I1095V XP_016883248.1

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