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CCTGGAATACAGGGAGGTGGTGGAC[A/G]GCCTGGAGAAGGCCATCTACAAGGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602269 MIM: 116790 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ARVCF PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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ARVCF - armadillo repeat gene deleted in velocardiofacial syndrome | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001670.2 | 990 | Intron | NP_001661.1 | |||
XM_005261242.2 | 990 | Intron | XP_005261299.1 | |||
XM_005261243.3 | 990 | Intron | XP_005261300.1 | |||
XM_005261244.3 | 990 | Intron | XP_005261301.1 | |||
XM_006724243.2 | 990 | Intron | XP_006724306.1 | |||
XM_006724245.2 | 990 | Intron | XP_006724308.1 | |||
XM_006724246.3 | 990 | Intron | XP_006724309.1 | |||
XM_006724247.3 | 990 | Intron | XP_006724310.1 | |||
XM_006724248.3 | 990 | Intron | XP_006724311.1 | |||
XM_006724249.3 | 990 | Intron | XP_006724312.1 | |||
XM_006724250.3 | 990 | Intron | XP_006724313.1 | |||
XM_011530179.2 | 990 | Intron | XP_011528481.1 | |||
XM_011530180.1 | 990 | Intron | XP_011528482.1 | |||
XM_011530181.1 | 990 | Intron | XP_011528483.1 | |||
XM_011530182.2 | 990 | Intron | XP_011528484.1 | |||
XM_011530183.2 | 990 | Intron | XP_011528485.1 |
COMT - catechol-O-methyltransferase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000754.3 | 990 | Missense Mutation | AGC,GGC | S,G 256 | NP_000745.1 | |
NM_001135161.1 | 990 | Missense Mutation | AGC,GGC | S,G 256 | NP_001128633.1 | |
NM_001135162.1 | 990 | Missense Mutation | AGC,GGC | S,G 256 | NP_001128634.1 | |
NM_007310.2 | 990 | Missense Mutation | AGC,GGC | S,G 206 | NP_009294.1 | |
XM_011529886.1 | 990 | Missense Mutation | AGC,GGC | S,G 294 | XP_011528188.1 | |
XM_017028594.1 | 990 | Missense Mutation | AGC,GGC | S,G 256 | XP_016884083.1 | |
XM_017028595.1 | 990 | Missense Mutation | AGC,GGC | S,G 256 | XP_016884084.1 |
MIR4761 - microRNA 4761 | ||||||
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There are no transcripts associated with this gene. |