Product Details

SNP ID

rs174699

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.22:19966935 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

CTCCTCTGACACTGTCGCTTCTCCA[T/C]GGCATTAGATTTTCAGTCCTGCTCA

Phenotype

MIM: 602269 MIM: 116790

Polymorphism

T/C, 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	1954	Intron			NP_001661.1
XM_005261242.2	1954	UTR 3			XP_005261299.1
XM_005261243.3	1954	Intron			XP_005261300.1
XM_005261244.3	1954	Intron			XP_005261301.1
XM_006724243.2	1954	UTR 3			XP_006724306.1
XM_006724245.2	1954	Intron			XP_006724308.1
XM_006724246.3	1954	UTR 3			XP_006724309.1
XM_006724247.3	1954	Intron			XP_006724310.1
XM_006724248.3	1954	Intron			XP_006724311.1
XM_006724249.3	1954	Intron			XP_006724312.1
XM_006724250.3	1954	Intron			XP_006724313.1
XM_011530179.2	1954	UTR 3			XP_011528481.1
XM_011530180.1	1954	Intron			XP_011528482.1
XM_011530181.1	1954	Intron			XP_011528483.1
XM_011530182.2	1954	UTR 3			XP_011528484.1
XM_011530183.2	1954	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	1954	Intron			NP_000745.1
NM_001135161.1	1954	Intron			NP_001128633.1
NM_001135162.1	1954	Intron			NP_001128634.1
NM_007310.2	1954	Intron			NP_009294.1
XM_011529886.1	1954	Intron			XP_011528188.1
XM_017028594.1	1954	Intron			XP_016884083.1
XM_017028595.1	1954	Intron			XP_016884084.1

Gene

MIR4761

Gene Name

microRNA 4761

There are no transcripts associated with this gene.

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