Product Details

SNP ID
rs140867328
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:50891614 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTAGACCAAAACCCTTCAACTTTTC[C/T]ATAGGAACTATTCTTCCATTTCAAC
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 4335 Missense Mutation AGA,GGA R1034G NP_001269460.1
NM_001282532.1 4335 Missense Mutation AGA,GGA R1034G NP_001269461.1
NM_015339.3 4335 Missense Mutation AGA,GGA R1034G NP_056154.1
NM_181442.2 4335 Missense Mutation AGA,GGA R1034G NP_852107.1
XM_011528747.2 4335 Missense Mutation AGA,GGA R1034G XP_011527049.1
XM_011528748.2 4335 Missense Mutation AGA,GGA R1043G XP_011527050.1
XM_017027757.1 4335 Missense Mutation AGA,GGA R1034G XP_016883246.1
XM_017027758.1 4335 Missense Mutation AGA,GGA R1034G XP_016883247.1
XM_017027759.1 4335 Missense Mutation AGA,GGA R1034G XP_016883248.1

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