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SNP ID: rs138782582
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.20:50935102 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GGCTTCTTTCATGTTTAACCTGAAA[C/T]GAACGTAACTATAAATGAGTATCTT
Phenotype: MIM: 611386 MIM: 603503
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	854	Intron			NP_001269460.1
NM_001282532.1	854	Intron			NP_001269461.1
NM_015339.3	854	Intron			NP_056154.1
NM_181442.2	854	Intron			NP_852107.1
XM_011528747.2	854	Intron			XP_011527049.1
XM_011528748.2	854	Intron			XP_011527050.1
XM_017027757.1	854	Intron			XP_016883246.1
XM_017027758.1	854	Intron			XP_016883247.1
XM_017027759.1	854	Intron			XP_016883248.1

Gene: ADNP-AS1
Gene Name: ADNP antisense RNA 1

There are no transcripts associated with this gene.

Gene: DPM1
Gene Name: dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317034.1	854	UTR 3			NP_001303963.1
NM_001317035.1	854	UTR 3			NP_001303964.1
NM_001317036.1	854	UTR 3			NP_001303965.1
NM_003859.2	854	UTR 3			NP_003850.1
XM_011529093.2	854	Intron			XP_011527395.1

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