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SNP ID:
rs4680
Gene
ARVCF COMT MIR4761
Gene Name
Set Membership:
> HapMap > DME > Validated > Inventoried
Chromosome Location:
Chr.22: 19963748 - 19963748 on Build GRCh38
Polymorphism:
A/G, Transition substitution
Context Sequence [VIC/FAM]:

CCAGCGGATGGTGGATTTCGCTGGC[A/G]TGAAGGACAAGGTGTGCATGCCTGA

Assay ID C__25746809_50
Size 150 rxns
Availability Inventoried
Catalog # 4362691
Price
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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:
1000Genome Applied Biosystems® HapMap
Global
A (0.37)
(0.63)
Caucasian
A (0.43)
(0.57)
CEPH (CEU)
A (0.48)
(0.52)
EAS
A (0.28)
(0.72)
African American
A (0.26)
(0.74)
YRI (Yoruba)
A (0.31)
(0.69)
SAS
A (0.44)
(0.56)
Japanese
A (0.37)
(0.63)
JPT (Japanese)
A (0.29)
(0.71)
AFR
A (0.28)
(0.72)
Chinese
A (0.31)
(0.69)
CHB (Han Chinese)
A (0.26)
(0.74)
EUR
G (0.50)
(0.50)
AMR
A (0.38)
(0.62)
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_000754.3 696 Missense Mutation ATG,GTG M,V 158 NP_000745.1
NM_001135161.1 696 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_007310.2 696 Missense Mutation ATG,GTG M,V 108 NP_009294.1
XM_011529886.1 696 Missense Mutation ATG,GTG M,V 196 XP_011528188.1
XM_017028594.1 696 Missense Mutation ATG,GTG M,V 158 XP_016884083.1
XM_017028595.1 696 Missense Mutation ATG,GTG M,V 158 XP_016884084.1
MIR4761 - microRNA 4761
There are no transcripts associated with this gene.

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