Product Details

SNP ID

rs36082074

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:19969340 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGGGACAGGTGGACCCCGCAGCA[A/G]CACCAGCCCCTCTGGGCCCCATGTG

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	1644	Intron			NP_001661.1
XM_005261242.2	1644	Intron			XP_005261299.1
XM_005261243.3	1644	Intron			XP_005261300.1
XM_005261244.3	1644	Intron			XP_005261301.1
XM_006724243.2	1644	Intron			XP_006724306.1
XM_006724245.2	1644	Intron			XP_006724308.1
XM_006724246.3	1644	Intron			XP_006724309.1
XM_006724247.3	1644	Intron			XP_006724310.1
XM_006724248.3	1644	Intron			XP_006724311.1
XM_006724249.3	1644	Intron			XP_006724312.1
XM_006724250.3	1644	Intron			XP_006724313.1
XM_011530179.2	1644	Intron			XP_011528481.1
XM_011530180.1	1644	Intron			XP_011528482.1
XM_011530181.1	1644	Intron			XP_011528483.1
XM_011530182.2	1644	Intron			XP_011528484.1
XM_011530183.2	1644	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	1644	UTR 3			NP_000745.1
NM_001135161.1	1644	UTR 3			NP_001128633.1
NM_001135162.1	1644	UTR 3			NP_001128634.1
NM_007310.2	1644	UTR 3			NP_009294.1
XM_011529886.1	1644	Intron			XP_011528188.1
XM_017028594.1	1644	Intron			XP_016884083.1
XM_017028595.1	1644	Intron			XP_016884084.1

Gene

MIR4761

Gene Name

microRNA 4761

There are no transcripts associated with this gene.

View Full Product Details