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SNP ID:
rs4685
Gene
SF3B1
Gene Name
Set Membership:
> HapMap
Chromosome Location:
Chr.2: 197393071 - 197393071 on Build GRCh38
Polymorphism:
C/T, Transition substitution
Context Sequence [VIC/FAM]:

GAATTACATGAGGAGATGTCTCAAA[C/T]ACATTGGGCCATACATAGTTCAACA

Assay ID C___2834688_20
Size
Availability Made To Order
Catalog # 4351379
Price
Your Price
Online offer:
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Assay Details



Species:

 Human

dbSNP Submissions:

 NA

Phenotype:

 MIM: 605590

Literature Links:

 SF3B1 PubMed Links

Allele Nomenclature:

Minor Allele Frequency:
1000Genome Applied Biosystems® HapMap
Global
A (0.28)
(0.72)
Caucasian - Not Available CEPH (CEU)
A (0.31)
(0.69)
EAS
A (0.48)
(0.52)
African American - Not Available YRI (Yoruba)
A (0.09)
(0.91)
SAS
A (0.25)
(0.75)
Chinese - Not Available JPT (Japanese)
A (0.26)
(0.74)
AFR
A (0.12)
(0.88)
Japanese - Not Available CHB (Han Chinese)
A (0.39)
(0.61)
EUR
A (0.27)
(0.73)
AMR
A (0.37)
(0.63)
SF3B1 - splicing factor 3b subunit 1
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_001005526.2 3751 Intron NP_001005526.1
NM_001308824.1 3751 Intron NP_001295753.1
NM_012433.3 3751 Silent Mutation NP_036565.2

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