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See other EGLN1 GT Assays ›
SNP ID:
rs973252
Gene
EGLN1
Gene Name
Set Membership:
> HapMap
Chromosome Location:
Chr.1: 231385056 - 231385056 on Build GRCh38
Polymorphism:
A/G, Transition substitution
Context Sequence [VIC/FAM]:

GATCACTTGGACCACAGTGGTAGCA[A/G]TGGAGGTGGTAAGAAGTGCTGGGAT

Assay ID C___9628729_10
Size
Availability Made To Order
Catalog # 4351379
Price
Your Price
Online offer:
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Assay Details



Species:

 Human

dbSNP Submissions:

 50 submissions

Phenotype:

 MIM: 606425

Literature Links:

 EGLN1 PubMed Links

Allele Nomenclature:

Minor Allele Frequency:
1000Genome Applied Biosystems® HapMap
Global
G (0.49)
(0.51)
Caucasian - Not Available CEPH (CEU)
A (0.37)
(0.63)
EAS
A (0.47)
(0.53)
African American - Not Available YRI (Yoruba)
G (0.29)
(0.71)
SAS
A (0.43)
(0.57)
Chinese - Not Available JPT (Japanese)
A (0.44)
(0.56)
AFR
G (0.26)
(0.74)
Japanese - Not Available CHB (Han Chinese)
A (0.45)
(0.55)
EUR
A (0.34)
(0.66)
AMR
A (0.48)
(0.52)
EGLN1 - egl-9 family hypoxia inducible factor 1
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_022051.2 Intron NP_071334.1
XM_005273166.4 Intron XP_005273223.1
XM_005273167.4 Intron XP_005273224.1

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