NCBI
dbSNP

dbVar ClinVar GaP PubMed Nucleotide Protein
Search small variations in dbSNP or large structural variations in dbVar
transparent GIF
Spacer gif
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Submitted SNP(ss) Details: ss48399190           
Submitter
HandleEGP_SNPS
Submitter SNP IDSLC4A2-001052
RefSNP(rs#)rs1549760
Submitted Batch IDSLC4A2-EGP_YORUB-090605
Submitted DateSep 07, 2005
Publication Cited[1] NIEHS Envirommental Genome Project (EGP) - (N01 ES-15478)
First entry to dbSNPSep 7 2005 12:00:00:000AM
Assay
SpeciesHomo sapiens
Molecular
Type
GENOMIC
MethodMETHOD-E
Ascertainment Samplesize24
PopulationEGP_YORUB-PANEL
Allele
Observed AlleleC/T
Ancestral AlleleN.D.
Allele OriginN/A
SNP ClassSNV
CpG CodeN.D.
Validation
Validation StatusbyFreq
HWE Goodness of Fitnot applicable
Homozygote DetectedY
Variation
Frequency Submissionpopulation count: 5
Genotype Summarypopulation count: 5
Genotype SubmissionN.D.
HaplotypeN.D.

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|ss48399190|allelePos=256|len=511|taxid=9606|alleles='C/T'|mol=Genomic
 GAACAGCTGT GCCCCTTCGA GGCTGGATTT TAGTGGAGGG ACACACGCCA AAGACCCCCT
 CTCTGCTGAG CCCCGTTTGT TGTCTCGGAG CCCACCCGAC TCTAGCCGCT GAACTCTGAC
 ATGCTGAGGA AAACTGGGTG GAGCCCTGGG GGTCCCCCTC AGACCCCAGT CTCCGGAACA
 GGGCCCACTG GAGTCAGCCA GGGTGTGGCA GGCAGGTTGG TTAACCCCCT CCACAGACAA
 GACCACAGAC CGATG
 Y
 TCAACTTGCA GCAGCCTCTG CCTCACCCCT TAAAGGAGCT GATTATAGAT TCCCTTACGC
 TGCCTCTCTA ATTGTCTCAT GATTGCATTC TTGAGGGCTA TGGACCGAGG GAAAAGGATC
 CCAAACAGCA CTCCTCAGCA CCGGAACCAG AGTTGCTGCT AAACACGTGT TAATTAACTC
 GTTTCTATCT GAATGCTTTT GCATACACAA GGGAAAAGAA GCAAAAAGTG TATTCCTTAT
 CTGGAAGACT TTGTG

  Submitted Frequency for ss48399190 back to top

Population ID
 -Class
Sample
(2n)
Major
Allele
Freq.
Minor
Allele
Freq.
Estimated
Heterozygosity
+/-std.err.
Genotype
Freq.
Submitted
Hetero-
zygosity
Submission
Batch
Submitter
EGP_CEPH-PANEL36C=0.80555600
T=0.19444400
SLC4A2-EGP_CEPH-090605EGP_SNPS
EGP_ASIAN-PANEL44C=0.65909100
T=0.34090900
SLC4A2-EGP_ASIAN-090605EGP_SNPS
EGP_YORUB-PANEL24C=0.79166698
T=0.20833300
SLC4A2-EGP_YORUB-090605EGP_SNPS
EGP_HISP-PANEL42C=0.52381003
T=0.47619000
SLC4A2-EGP_HISP-090605EGP_SNPS
EGP_AD-PANEL28C=0.67857099
T=0.32142901
SLC4A2-EGP_AD-090605EGP_SNPS


  dbSNP summary of Genotypes for ss48399190 back to top

Population ID
 -Class
Total
Sample
(2N)
Founder
(2N)
Major
Allele
Freq.
Minor
Allele
Freq.
Genotype
Freq.
HWE Goodness of FitData
Source
EGP_YORUB-PANEL2424C=0.79166669
T=0.20833333C/C=0.66666669
C/T=0.25000000
T/T=0.08333334
Pr(chiSq=0.703,df=1)
=0.403
Genotype
Freq.
EGP_HISP-PANEL4242C=0.52380955
T=0.47619048C/C=0.38095239
T/T=0.33333334
C/T=0.28571430
Pr(chiSq=3.834,df=1)
=0.100
Genotype
Freq.
EGP_CEPH-PANEL3636C=0.80555558
T=0.19444445C/C=0.66666669
C/T=0.27777779
T/T=0.05555556
Pr(chiSq=0.231,df=1)
=0.655
Genotype
Freq.
EGP_AD-PANEL2828C=0.67857140
T=0.32142857C/C=0.50000000
C/T=0.35714287
T/T=0.14285715
Pr(chiSq=0.460,df=1)
=0.527
Genotype
Freq.
EGP_ASIAN-PANEL4444C=0.65909094
T=0.34090909C/C=0.45454547
C/T=0.40909091
T/T=0.13636364
Pr(chiSq=0.177,df=1)
=0.752
Genotype
Freq.

  Submitted individual genotype for ss48399190 back to top
There is no individual genotype data for ss48399190.

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION: FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement