Name: [C__25746809_50] [ARVCF]
Creator: Thermo Fisher Scientific
Keywords: [ARVCF] Assay, [armadillo repeat gene deleted in velocardiofacial syndrome] Assay

Genomic Map

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Assay Details

Species:	Human
dbSNP Submissions:	NA
Phenotype:	MIM: 602269 MIM: 116790
Literature Links:	ARVCF PubMed Links
Allele Nomenclature:
Minor Allele Frequency:

Applied Biosystems^®

Caucasian

A (0.43)

(0.57)

African American

A (0.26)

(0.74)

Japanese

A (0.37)

(0.63)

Chinese

A (0.31)

(0.69)

ARVCF - armadillo repeat gene deleted in velocardiofacial syndrome
There are no transcripts associated with this gene.

COMT - catechol-O-methyltransferase
Transcript Accession	SNP Location	SNP Type	Observed Codons	Observed Amino Acid	Protein ID
NM_000754.3	721	Missense Mutation	ATG,GTG	M,V 158	NP_000745.1
NM_001135161.1	679	Missense Mutation	ATG,GTG	M,V 158	NP_001128633.1
NM_001135162.1	696	Missense Mutation	ATG,GTG	M,V 158	NP_001128634.1
NM_007310.2	452	Missense Mutation	ATG,GTG	M,V 108	NP_009294.1
XM_011529886.1	626	Missense Mutation	ATG,GTG	M,V 196	XP_011528188.1
XM_017028594.1	945	Missense Mutation	ATG,GTG	M,V 158	XP_016884083.1
XM_017028595.1	889	Missense Mutation	ATG,GTG	M,V 158	XP_016884084.1