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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs7550383          
refSNP ID: rs7550383
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_018417.2:c.3309+108C>T
NT_004487.18:g.18295794G>A
Links

SNP Details are organized in the following sections:
Submission Fasta Resource GeneView Map Diversity Validation

  Submitter records for this RefSNP Cluster back to top
The submission ss39683467 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs7550383 during BLAST analysis for the current build.

NCBI
Assay ID
Handle|Submitter IDValidation
Status
ss to rs
Orientation
/Strand
Alleles5' Near Seq 30 bp3' Near Seq 30 bpEntry
Date
Update
Date
Build
Added
Molecule
Type
Freq
Warning
Ancestral
Allele
Success
Rate
ss11419487WI_SSAHASNP|chr1.NT_004668.15_14175998byFreqfwd/TA/Gatgtgattttcagtggaaaggggtgctgtcggaatatacaacgtgaagtaatcagaaagc07/03/0310/25/06116Genomicunknown
ss20548183SSAHASNP|WGSA-200403-chr1.chr1.NT_004668.16_6310911fwd/TA/Gatgtgattttcagtggaaaggggtgctgtcggaatatacaacgtgaagtaatcagaaagc03/18/0403/18/04121Genomicunknown
ss23179798PERLEGEN|afd0657682byFreqfwd/TA/Gatgtgattttcagtggaaaggggtgctgtcggaatatacaacgtgaagtaatcagaaagc08/10/0409/13/04123Genomicunknown
ss39683467ABI|hCV30126920fwd/TA/Gatgtgattttcagtggaaaggggtgctgtcggaatatacaacgtgaagtaatcagaaagc07/16/0507/17/05126Genomicunknown
ss87858826BCMHGSC_JDW|JWB-0141320fwd/TA/Gatgtgattttcagtggaaaggggtgctgtcggaatatacaacgtgaagtaatcagaaagc02/26/0802/26/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs7550383|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 AACCAGAATT GCACTTATCC AAAGACCTAC AGGTATTTTG TGCTCACAGG TATTTTAGGC
 TTAACAGAGG GTAAATGCCA CTTGAGGAAG ACTATGCTGA GAGTCCTCTC TGCATCATTT
 TGGGAATGAG ATGTGCCCCC TTACCTCCCA TACAGGTAGA CAATTCATGG CAAGTTTCTA
 AAGGTGGCAA TATTTTAAAT AATTTACAAT GCTAGTTGCA ATGTATTCCA ATTCTCTTTT
 CTCAATCTTA GATCATTTCC CTTCTAAGCA ATGTGATTTT CAGTGGAAAG GGGTGCTGTC
 R
 GGAATATACA ACGTGAAGTA ATCAGAAAGC ATGCTGGAGC TTCCTTCTGG CTCTATGTTC
 TATGAATTGT CTCTAGGGTG GAGGTGGTCT GGGTAGAAAC AGCTTACCAT GTAGTTATCA
 CAAAAGATGA GATAAGCAGA TGCAATTTCT AAGAAGTAAT ATAAGGCTTT GTCATTTTCT
 CCCAAAGCCA GAAAATGGTG GGCCAGAGGC AAGATGACAA TCTCTAGGAT TTCTTCACAC
 TGGCAAGATT CCAGAGGGAT AATGTCTTCG TCAGATGTCT TCATTTTTGT TAAAACGTGG

  GeneView back to top
GeneView via analysis of contig annotation: ADCY10 adenylate cyclase 10 (soluble)
View variations for gene:
Include clinically associated: in gene region cSNP has frequency double hit
Group
Label
Contig->mRNAGene Model (contig mRNA transcript) Color Legend
referenceNT_004487->NM_018417
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_004487->NM_018417->NP_06088718295794reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs7550383 maps exactly once on NCBI human chromosome 1
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
1NW_001838532.2949704139051686minusTalt_assembly_8HuRefHuRefview300
1NW_926128.16169439140914680plusGalt_assembly_1CeleraCeleraview300
1NT_004487.1818295794166072063plusGref_assemblyreferencereferenceview300

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_004668
dbSNP Blast Analysis
GenBank HTGS Finished:
Z99943.1

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss11419487CHMJAsian 74IG 0.230 0.770
ss23179798AFD_EUR_PANELEuropean 48IG 0.125 0.583 0.292 0.343 0.417 0.583
AFD_AFR_PANELAfrican American 46IG 0.304 0.522 0.174 1.000 0.565 0.435
AFD_CHN_PANELAsian 48IG 0.083 0.375 0.542 1.000 0.271 0.729

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.486+/-0.083715000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hit
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .