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See other CFD GT Assays ›
SNP ID:
rs1683563
Gene
CFD ELANE MED16
Gene Name
Set Membership:
> HapMap
Chromosome Location:
Chr.19: 861593 - 861593 on Build GRCh38
Polymorphism:
C/G, Transversion substitution
Context Sequence [VIC/FAM]:

CTCCTGCTGCACTGAGACCCACGCC[C/G]CTGCCCTGATGCCCACCTCCCCCGT

Assay ID C___9612128_10
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: 134350 MIM: 130130 MIM: 604062

Literature Links:

 CFD PubMed Links

Allele Nomenclature:

Minor Allele Frequency:
1000Genome Applied Biosystems® HapMap
Global
C (0.43)
(0.57)
Caucasian - Not Available CEPH (CEU)
G (0.35)
(0.65)
EAS
C (0.29)
(0.71)
African American - Not Available YRI (Yoruba)
C (0.25)
(0.75)
SAS
G (0.43)
(0.57)
Chinese - Not Available JPT (Japanese)
C (0.31)
(0.69)
AFR
C (0.28)
(0.72)
Japanese - Not Available CHB (Han Chinese)
C (0.28)
(0.72)
EUR
G (0.41)
(0.59)
AMR
C (0.48)
(0.52)
CFD - complement factor D
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_001317335.1 Intron NP_001304264.1
NM_001928.3 Intron NP_001919.2
ELANE - elastase, neutrophil expressed
There are no transcripts associated with this gene.
MED16 - mediator complex subunit 16
There are no transcripts associated with this gene.

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