Product Details

SNP ID: rs117222687
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.22:19968491 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ATCCTGGTTTGGGGCAGGTTCTCTG[C/G]GCACCTCTGACCCTCACCTCCCCCA
Phenotype: MIM: 602269 MIM: 116790
Polymorphism: C/G, Transversion 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		Intron			NP_001661.1
XM_005261242.2		Intron			XP_005261299.1
XM_005261243.3		Intron			XP_005261300.1
XM_005261244.3		Intron			XP_005261301.1
XM_006724243.2		Intron			XP_006724306.1
XM_006724245.2		Intron			XP_006724308.1
XM_006724246.3		Intron			XP_006724309.1
XM_006724247.3		Intron			XP_006724310.1
XM_006724248.3		Intron			XP_006724311.1
XM_006724249.3		Intron			XP_006724312.1
XM_006724250.3		Intron			XP_006724313.1
XM_011530179.2		Intron			XP_011528481.1
XM_011530180.1		Intron			XP_011528482.1
XM_011530181.1		Intron			XP_011528483.1
XM_011530182.2		Intron			XP_011528484.1
XM_011530183.2		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		Intron			NP_000745.1
NM_001135161.1		Intron			NP_001128633.1
NM_001135162.1		Intron			NP_001128634.1
NM_007310.2		Intron			NP_009294.1
XM_011529886.1		Intron			XP_011528188.1
XM_017028594.1		Intron			XP_016884083.1
XM_017028595.1		Intron			XP_016884084.1

Gene: MIR4761
Gene Name: microRNA 4761

There are no transcripts associated with this gene.

View Full Product Details