Product Details

SNP ID
rs200797590
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:50891486 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTACTCCATCAGTCATGTTGTCAAA[C/G]TGTTCCCCATCCTCACTGTCAATTG
Phenotype
MIM: 611386
Polymorphism
C/G, Transversion 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 4463 Missense Mutation CAC,CAG H1076Q NP_001269460.1
NM_001282532.1 4463 Missense Mutation CAC,CAG H1076Q NP_001269461.1
NM_015339.3 4463 Missense Mutation CAC,CAG H1076Q NP_056154.1
NM_181442.2 4463 Missense Mutation CAC,CAG H1076Q NP_852107.1
XM_011528747.2 4463 Missense Mutation CAC,CAG H1076Q XP_011527049.1
XM_011528748.2 4463 Missense Mutation CAC,CAG H1085Q XP_011527050.1
XM_017027757.1 4463 Missense Mutation CAC,CAG H1076Q XP_016883246.1
XM_017027758.1 4463 Missense Mutation CAC,CAG H1076Q XP_016883247.1
XM_017027759.1 4463 Missense Mutation CAC,CAG H1076Q XP_016883248.1

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