Product Details

SNP ID

rs2531717

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:20017414 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTCACGCCCCTGGGTCCCCGCAG[C/G]GGGGAGACGATGGAGGTAGGAGCTG

Phenotype

MIM: 602269 MIM: 616830

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

TANGO2

Gene Name

transport and golgi organization 2 homolog

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001283106.2		Intron			NP_001270035.1
NM_001283116.2		Intron			NP_001270045.1
NM_001283129.2		Intron			NP_001270058.1
NM_001283148.2		Intron			NP_001270077.1
NM_001283154.2		Intron			NP_001270083.1
NM_001283179.2		Intron			NP_001270108.1
NM_001283186.2		Intron			NP_001270115.1
NM_001283199.2		Intron			NP_001270128.1
NM_001283215.2		Intron			NP_001270144.1
NM_001283235.2		Intron			NP_001270164.1
NM_001283248.2		Intron			NP_001270177.1
NM_001322141.1		Intron			NP_001309070.1
NM_001322142.1		Intron			NP_001309071.1
NM_001322143.1		Intron			NP_001309072.1
NM_001322144.1		Intron			NP_001309073.1
NM_001322145.1		Intron			NP_001309074.1
NM_001322146.1		Intron			NP_001309075.1
NM_001322147.1		Intron			NP_001309076.1
NM_001322148.1		Intron			NP_001309077.1
NM_001322149.1		Intron			NP_001309078.1
NM_001322150.1		Intron			NP_001309079.1
NM_001322153.1		Intron			NP_001309082.1
NM_001322155.1		Intron			NP_001309084.1
NM_001322160.1		Intron			NP_001309089.1
NM_001322163.1		Intron			NP_001309092.1
NM_001322166.1		Intron			NP_001309095.1
NM_001322167.1		Intron			NP_001309096.1
NM_001322169.1		Intron			NP_001309098.1
NM_001322171.1		Intron			NP_001309100.1
NM_001322172.1		Intron			NP_001309101.1
NM_001322173.1		Intron			NP_001309102.1
NM_001322174.1		Intron			NP_001309103.1
NM_001322175.1		Intron			NP_001309104.1
NM_152906.6		Intron			NP_690870.3
XM_011529863.1		Intron			XP_011528165.1
XM_011529865.1		Intron			XP_011528167.1
XM_011529867.1		Intron			XP_011528169.1
XM_017028577.1		Intron			XP_016884066.1
XM_017028578.1		Intron			XP_016884067.1
XM_017028579.1		Intron			XP_016884068.1
XM_017028580.1		Intron			XP_016884069.1
XM_017028581.1		Intron			XP_016884070.1
XM_017028582.1		Intron			XP_016884071.1
XM_017028583.1		Intron			XP_016884072.1
XM_017028584.1		Intron			XP_016884073.1
XM_017028585.1		Intron			XP_016884074.1
XM_017028586.1		Intron			XP_016884075.1
XM_017028587.1		Intron			XP_016884076.1
XM_017028588.1		Intron			XP_016884077.1

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