Product Details

SNP ID
rs165599
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:19969258 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTTAGCCCCATGGGGACGACTGCC[A/G]GCCTGGGAAACGAAGAGGAGTCAGC
Phenotype
MIM: 602269 MIM: 116790
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ARVCF PubMed Links

Gene Details

Gene
ARVCF
Gene Name
armadillo repeat gene deleted in velocardiofacial syndrome
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001670.2 1562 Intron NP_001661.1
XM_005261242.2 1562 Intron XP_005261299.1
XM_005261243.3 1562 Intron XP_005261300.1
XM_005261244.3 1562 Intron XP_005261301.1
XM_006724243.2 1562 Intron XP_006724306.1
XM_006724245.2 1562 Intron XP_006724308.1
XM_006724246.3 1562 Intron XP_006724309.1
XM_006724247.3 1562 Intron XP_006724310.1
XM_006724248.3 1562 Intron XP_006724311.1
XM_006724249.3 1562 Intron XP_006724312.1
XM_006724250.3 1562 Intron XP_006724313.1
XM_011530179.2 1562 Intron XP_011528481.1
XM_011530180.1 1562 Intron XP_011528482.1
XM_011530181.1 1562 Intron XP_011528483.1
XM_011530182.2 1562 Intron XP_011528484.1
XM_011530183.2 1562 Intron XP_011528485.1
Gene
COMT
Gene Name
catechol-O-methyltransferase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000754.3 1562 UTR 3 NP_000745.1
NM_001135161.1 1562 UTR 3 NP_001128633.1
NM_001135162.1 1562 UTR 3 NP_001128634.1
NM_007310.2 1562 UTR 3 NP_009294.1
XM_011529886.1 1562 Intron XP_011528188.1
XM_017028594.1 1562 Intron XP_016884083.1
XM_017028595.1 1562 Intron XP_016884084.1
Gene
MIR4761
Gene Name
microRNA 4761
There are no transcripts associated with this gene.

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