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See other CYP1B1 GT Assays ›
SNP ID:
rs1056836
Gene
CYP1B1 RMDN2
Gene Name
Set Membership:
> HapMap > DME > Validated > Inventoried
Chromosome Location:
Chr.2: 38071060 - 38071060 on Build GRCh38
Polymorphism:
C/G, Transversion substitution
Context Sequence [VIC/FAM]:

AAGTTCTCCGGGTTAGGCCACTTCA[C/G]TGGGTCATGATTCACAGACCACTGG

Assay ID C___3099976_30
Size 150 rxns
Availability Inventoried
Catalog # 4362691
Price
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Online offer:
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Assay Details



Species:

 Human

dbSNP Submissions:

 NA

Phenotype:

 MIM: 601771 MIM: 611872

Literature Links:

 CYP1B1 PubMed Links

Allele Nomenclature:

 CYP1B1*3,g.4326C>G CYP1B1*5,g.4326C>G CYP1B1*6,g.4326C>G CYP1B1*7,g.4326C>G

Minor Allele Frequency:
1000Genome Applied Biosystems® HapMap
Global
G (0.39)
(0.61)
Caucasian
G (0.49)
(0.51)
CEPH (CEU)
G (0.45)
(0.55)
EAS
C (0.09)
(0.91)
African American
G (0.28)
(0.72)
YRI (Yoruba)
C (0.12)
(0.88)
SAS
G (0.17)
(0.83)
Japanese
C (0.18)
(0.82)
JPT (Japanese)
G (0.10)
(0.90)
AFR
G (0.18)
(0.82)
Chinese
C (0.09)
(0.91)
CHB (Han Chinese)
G (0.13)
(0.87)
EUR
C (0.40)
(0.60)
AMR
G (0.28)
(0.72)
CYP1B1 - cytochrome P450 family 1 subfamily B member 1
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_000104.3 1697 Missense Mutation CTG,GTG L,V 432 NP_000095.2
RMDN2 - regulator of microtubule dynamics 2
There are no transcripts associated with this gene.

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More Information


Set Membership:

 HapMap DME Validated Inventoried

Gene Ontology Categories:

Function(s) Process(es)


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