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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs10503899          
refSNP ID: rs10503899
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:119/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_013962.2:c.745+448989A>G
NT_007995.14:g.2268008A>G
Links , Linkout

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 ss112965168 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs10503899 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
ss14897715PERLEGEN|PS01895341byFreqfwd/TA/Gtcagcagcaaagtgacagaaacgctcatacttaaaaactaaaaattagacttaattggtt11/13/0304/07/04119Genomicunknown
ss24480240PERLEGEN|afd1895341byFreqfwd/TA/Gtcagcagcaaagtgacagaaacgctcatacttaaaaactaaaaattagacttaattggtt08/10/0409/13/04123Genomicunknown
ss66030032AFFY|SNP_A-1711701rev/BC/Tattaagtctaatttttagtttttaagtatgagcgtttctgtcactttgct10/26/0610/26/06127Genomicunknown
ss66570450ILLUMINA|HumanHap300v1.1_rs10503899fwd/BA/Gtcagcagcaaagtgacagaaacgctcatacttaaaaactaaaaattagacttaattggtt11/09/0611/09/06127Genomicunknown
ss66890624ILLUMINA|HumanHap550v1.1_rs10503899fwd/TA/Gtcagcagcaaagtgacagaaacgctcatacttaaaaactaaaaattagacttaattggtt11/14/0611/14/06127Genomicunknown
ss66993832ILLUMINA|HumanHap650Yv1.0_rs10503899fwd/TA/Gtcagcagcaaagtgacagaaacgctcatacttaaaaactaaaaattagacttaattggtt11/14/0611/14/06127Genomicunknown
ss69046304PERLEGEN|PGP01895341byFreqfwd/TA/Gtcagcagcaaagtgacagaaacgctcatacttaaaaactaaaaattagacttaattggtt01/30/0703/31/08127Genomicunknown
ss70371832ILLUMINA|HumanHap300v2.0_rs10503899fwd/TA/Gtcagcagcaaagtgacagaaacgctcatacttaaaaactaaaaattagacttaattggtt04/18/0711/18/07127Genomicunknown
ss70486554ILLUMINA|HumanHap550v3.0__rs10503899fwd/TA/Gtcagcagcaaagtgacagaaacgctcatacttaaaaactaaaaattagacttaattggtt04/20/0703/30/08130Genomicunknown
ss71010766ILLUMINA|HumanHap650Yv3.0_rs10503899fwd/TA/Gtcagcagcaaagtgacagaaacgctcatacttaaaaactaaaaattagacttaattggtt04/23/0704/23/07127Genomicunknown
ss74952522ILLUMINA|ILMN_Human_1M_rs10503899fwd/TA/Gtcagcagcaaagtgacagaaacgctcatacttaaaaactaaaaattagacttaattggtt08/28/0708/29/07129Genomicunknown
ss84963167KRIBB_YJKIM|KHS860882fwd/TA/Gtcagcagcaaagtgacagaaacgctcatacttaaaaactaaaaattagacttaattggtt12/04/0712/08/07130Genomicunknown
ss1129651681000GENOMES|CEU.trio.12.15.2008_1965507_chr8_32066776fwd/TA/Gtcagcagcaaagtgacagaaacgctcatacttaaaaactaaaaattagacttaattggtt12/15/0812/18/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs10503899|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 TAAATGCCAG ATTTTTTCTC TCTAGGGCAA CAGTCATCTT GTATAACTTT GAATTCACAC
 TAAAATCCTC TGTAGCAACA TAAAGATAGA AAAATCCTCC TTTCAGCAAT ATGGCACTGT
 GTGCAATGAG CAAATGCAAT GATATAGAAG GAAGATTGAG TTTAAGAGTA TCAGCAGCAA
 AGTGACAGAA ACGCTCATAC
 R
 TTAAAAACTA AAAATTAGAC TTAATTGGTT ATAGGTGGGA GGAGCCTATT ACTTTTGGTG
 AGGACACATA TAGGTGGGAA AAAGAGAAAG AAAAAAAGAA CATATCTATG ACAGGAAGCT
 TCACAGATTT CATTTTCATA ATACTTTTTG AGACTAAAGG AAATAGAACA TTTTCTGTCA
 TATGTGTTCC AAGTAATGTC

  GeneView back to top
GeneView via analysis of contig annotation: NRG1 neuregulin 1
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_007995->NM_013962
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_007995->NM_013962->NP_0392562268008forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs10503899 maps exactly once on NCBI human chromosome 8
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
8NW_001839128.2681865330492353minusTalt_assembly_8HuRefHuRefview100
8NW_923907.11947351530905677plusAalt_assembly_1CeleraCeleraview100
8NT_007995.14226800832066776plusAref_assemblyreferencereferenceview100

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000008.9
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss14897715AfAmAfrican American 12IG 0.667 0.333 0.655 0.833 0.167
CaucasianEuropean 24IG 0.333 0.500 0.167 1.000 0.583 0.417
AsianAsian 12IG 0.833 0.167 1.000 0.917 0.083
CEPHEuropean 10IG 0.400 0.600 0.584 0.200 0.800
PDpanelGlobal 46IG 0.478 0.217 0.304 0.010 0.587 0.413
HapMap-CEUEuropean 120IG 0.267 0.517 0.217 1.000 0.525 0.475
HapMap-HCBAsian 90IG 0.778 0.222 0.527 0.889 0.111
HapMap-JPTAsian 90IG 0.800 0.200 0.527 0.900 0.100
HapMap-YRISub-Saharan African 120IG 0.967 0.033 1.000 0.983 0.017
CHMJAsian 74IG 0.932 0.068
ss24480240AFD_EUR_PANELEuropean 48IG 0.292 0.458 0.250 0.752 0.521 0.479
AFD_AFR_PANELAfrican American 46IG 0.913 0.087 1.000 0.957 0.043
AFD_CHN_PANELAsian 48IG 0.625 0.375 0.273 0.812 0.188
ss69046304HapMap-CEUEuropean 120GF 0.267 0.567 0.167 0.550 0.450
HapMap-HCBAsian 90GF 0.600 0.400 0.800 0.200
HapMap-JPTAsian 90GF 0.733 0.267 0.867 0.133
HapMap-YRISub-Saharan African 120GF 0.683 0.300 0.017 0.833 0.167
Concordant GenotypeTotal SampleA/AA/GG/G
ss148977152751668425
ss244802407042226
ss690463042231426813
RefSNP Genotype SummaryTotal IndividualA/AA/GG/G
rs1050389937820110030
Discordant Genotypes:
Indiviudal
SampleID
SubSNP(ss)GenotypePopulation
Handle
Submitter
Population
Submitter
SampleID
SampleID
Alias
Submission
Batch
NCBI
ProbeID
161ss14897715G/GCSHL-HAPMAPHapMap-CEUNA07029CEPH1340.01r23_ch8_CEU_illumina:infinium_genotyping_2.0.066689
161ss69046304A/GCSHL-HAPMAPHapMap-CEUNA07029CEPH1340.01chr8-HapMap-CEU
187ss14897715A/ACSHL-HAPMAPHapMap-CEUNA06985CEPH1341.14r23_ch8_CEU_illumina:infinium_genotyping_2.0.066689
187ss69046304A/GCSHL-HAPMAPHapMap-CEUNA06985CEPH1341.14chr8-HapMap-CEU
229ss14897715A/GCSHL-HAPMAPHapMap-CEUNA10859CEPH1347.02r23_ch8_CEU_illumina:infinium_genotyping_2.0.066689
229ss69046304A/ACSHL-HAPMAPHapMap-CEUNA10859CEPH1347.02chr8-HapMap-CEU
242ss14897715A/ACSHL-HAPMAPHapMap-CEUNA10854CEPH1349.02r23_ch8_CEU_illumina:infinium_genotyping_2.0.066689
242ss24480240A/APERLEGENAFD_EUR_PANELNA1085471_IND_CHR_8
242ss69046304A/GCSHL-HAPMAPHapMap-CEUNA10854CEPH1349.02chr8-HapMap-CEU
255ss14897715A/ACSHL-HAPMAPHapMap-CEUNA10855CEPH1350.02r23_ch8_CEU_illumina:infinium_genotyping_2.0.066689
255ss69046304A/GCSHL-HAPMAPHapMap-CEUNA10855CEPH1350.02chr8-HapMap-CEU
366ss14897715G/GCSHL-HAPMAPHapMap-CEUNA10863CEPH1375.02r23_ch8_CEU_illumina:infinium_genotyping_2.0.066689
366ss69046304A/GCSHL-HAPMAPHapMap-CEUNA10863CEPH1375.02chr8-HapMap-CEU
536ss14897715G/GCSHL-HAPMAPHapMap-CEUNA12751CEPH1444.14r23_ch8_CEU_illumina:infinium_genotyping_2.0.066689
536ss69046304A/GCSHL-HAPMAPHapMap-CEUNA12751CEPH1444.14chr8-HapMap-CEU
546ss14897715A/GCSHL-HAPMAPHapMap-CEUNA12761CEPH1447.10r23_ch8_CEU_illumina:infinium_genotyping_2.0.066689
546ss69046304A/ACSHL-HAPMAPHapMap-CEUNA12761CEPH1447.10chr8-HapMap-CEU
576ss14897715A/GCSHL-HAPMAPHapMap-CEUNA12812CEPH1454.12r23_ch8_CEU_illumina:infinium_genotyping_2.0.066689
576ss69046304A/ACSHL-HAPMAPHapMap-CEUNA12812CEPH1454.12chr8-HapMap-CEU
618ss14897715G/GCSHL-HAPMAPHapMap-CEUNA12872CEPH1459.09r23_ch8_CEU_illumina:infinium_genotyping_2.0.066689
618ss69046304A/GCSHL-HAPMAPHapMap-CEUNA12872CEPH1459.09chr8-HapMap-CEU
619ss14897715A/ACSHL-HAPMAPHapMap-CEUNA12873CEPH1459.10r23_ch8_CEU_illumina:infinium_genotyping_2.0.066689
619ss69046304A/GCSHL-HAPMAPHapMap-CEUNA12873CEPH1459.10chr8-HapMap-CEU
637ss14897715G/GCSHL-HAPMAPHapMap-CEUNA12892CEPH1463.16r23_ch8_CEU_illumina:infinium_genotyping_2.0.066689
637ss69046304A/GCSHL-HAPMAPHapMap-CEUNA12892CEPH1463.16chr8-HapMap-CEU
5132ss14897715A/ACSHL-HAPMAPHapMap-YRINA18500YOR004.01r23_ch8_YRI_illumina:infinium_genotyping_2.0.066689
5132ss69046304A/GCSHL-HAPMAPHapMap-YRINA18500YOR004.01chr8-HapMap-YRI
5133ss14897715A/ACSHL-HAPMAPHapMap-YRINA18502YOR004.02r23_ch8_YRI_illumina:infinium_genotyping_2.0.066689
5133ss69046304A/GCSHL-HAPMAPHapMap-YRINA18502YOR004.02chr8-HapMap-YRI
5134ss14897715A/ACSHL-HAPMAPHapMap-YRINA19127YOR077.02r23_ch8_YRI_illumina:infinium_genotyping_2.0.066689
5134ss69046304A/GCSHL-HAPMAPHapMap-YRINA19127YOR077.02chr8-HapMap-YRI
5135ss14897715A/ACSHL-HAPMAPHapMap-YRINA19128YOR077.03r23_ch8_YRI_illumina:infinium_genotyping_2.0.066689
5135ss69046304A/GCSHL-HAPMAPHapMap-YRINA19128YOR077.03chr8-HapMap-YRI
5138ss14897715A/ACSHL-HAPMAPHapMap-YRINA19130YOR101.03r23_ch8_YRI_illumina:infinium_genotyping_2.0.066689
5138ss69046304A/GCSHL-HAPMAPHapMap-YRINA19130YOR101.03chr8-HapMap-YRI
5145ss14897715A/ACSHL-HAPMAPHapMap-YRINA19240YOR117.01r23_ch8_YRI_illumina:infinium_genotyping_2.0.066689
5145ss69046304A/GCSHL-HAPMAPHapMap-YRINA19240YOR117.01chr8-HapMap-YRI
5149ss14897715A/ACSHL-HAPMAPHapMap-HCBNA18524CH18524r23_ch8_HCB_illumina:infinium_genotyping_2.0.066689
5149ss69046304A/GCSHL-HAPMAPHapMap-HCBNA18524CH18524chr8-HapMap-HCB
5153ss14897715A/ACSHL-HAPMAPHapMap-HCBNA18561CH18561r23_ch8_HCB_illumina:infinium_genotyping_2.0.066689
5153ss69046304A/GCSHL-HAPMAPHapMap-HCBNA18561CH18561chr8-HapMap-HCB
5161ss14897715A/ACSHL-HAPMAPHapMap-HCBNA18572CH18572r23_ch8_HCB_illumina:infinium_genotyping_2.0.066689
5161ss69046304A/GCSHL-HAPMAPHapMap-HCBNA18572CH18572chr8-HapMap-HCB
5170ss14897715A/ACSHL-HAPMAPHapMap-HCBNA18566CH18566r23_ch8_HCB_illumina:infinium_genotyping_2.0.066689
5170ss69046304A/GCSHL-HAPMAPHapMap-HCBNA18566CH18566chr8-HapMap-HCB
5171ss14897715A/ACSHL-HAPMAPHapMap-HCBNA18563CH18563r23_ch8_HCB_illumina:infinium_genotyping_2.0.066689
5171ss69046304A/GCSHL-HAPMAPHapMap-HCBNA18563CH18563chr8-HapMap-HCB
5176ss14897715A/ACSHL-HAPMAPHapMap-HCBNA18621CH18621r23_ch8_HCB_illumina:infinium_genotyping_2.0.066689
5176ss69046304A/GCSHL-HAPMAPHapMap-HCBNA18621CH18621chr8-HapMap-HCB
5187ss14897715A/ACSHL-HAPMAPHapMap-HCBNA18633CH18633r23_ch8_HCB_illumina:infinium_genotyping_2.0.066689
5187ss69046304A/GCSHL-HAPMAPHapMap-HCBNA18633CH18633chr8-HapMap-HCB
5189ss14897715A/ACSHL-HAPMAPHapMap-HCBNA18592CH18592r23_ch8_HCB_illumina:infinium_genotyping_2.0.066689
5189ss69046304A/GCSHL-HAPMAPHapMap-HCBNA18592CH18592chr8-HapMap-HCB
5193ss14897715A/ACSHL-HAPMAPHapMap-JPTNA18942JA18942r23_ch8_JPT_illumina:infinium_genotyping_2.0.066689
5193ss69046304A/GCSHL-HAPMAPHapMap-JPTNA18942JA18942chr8-HapMap-JPT
5198ss14897715A/ACSHL-HAPMAPHapMap-JPTNA18944JA18944r23_ch8_JPT_illumina:infinium_genotyping_2.0.066689
5198ss69046304A/GCSHL-HAPMAPHapMap-JPTNA18944JA18944chr8-HapMap-JPT
5242ss14897715A/ACSHL-HAPMAPHapMap-YRINA18508YOR009.02r23_ch8_YRI_illumina:infinium_genotyping_2.0.066689
5242ss69046304A/GCSHL-HAPMAPHapMap-YRINA18508YOR009.02chr8-HapMap-YRI
5248ss14897715A/ACSHL-HAPMAPHapMap-YRINA18517YOR013.02r23_ch8_YRI_illumina:infinium_genotyping_2.0.066689
5248ss69046304A/GCSHL-HAPMAPHapMap-YRINA18517YOR013.02chr8-HapMap-YRI
5251ss14897715A/ACSHL-HAPMAPHapMap-YRINA18523YOR016.02r23_ch8_YRI_illumina:infinium_genotyping_2.0.066689
5251ss69046304A/GCSHL-HAPMAPHapMap-YRINA18523YOR016.02chr8-HapMap-YRI
5252ss14897715A/ACSHL-HAPMAPHapMap-YRINA18522YOR016.03r23_ch8_YRI_illumina:infinium_genotyping_2.0.066689
5252ss69046304G/GCSHL-HAPMAPHapMap-YRINA18522YOR016.03chr8-HapMap-YRI
5254ss14897715A/ACSHL-HAPMAPHapMap-YRINA18870YOR017.02r23_ch8_YRI_illumina:infinium_genotyping_2.0.066689
5254ss69046304A/GCSHL-HAPMAPHapMap-YRINA18870YOR017.02chr8-HapMap-YRI
5255ss14897715A/ACSHL-HAPMAPHapMap-YRINA18871YOR017.03r23_ch8_YRI_illumina:infinium_genotyping_2.0.066689
5255ss69046304A/GCSHL-HAPMAPHapMap-YRINA18871YOR017.03chr8-HapMap-YRI
5256ss14897715A/ACSHL-HAPMAPHapMap-YRINA18854YOR018.01r23_ch8_YRI_illumina:infinium_genotyping_2.0.066689
5256ss69046304A/GCSHL-HAPMAPHapMap-YRINA18854YOR018.01chr8-HapMap-YRI
5258ss14897715A/ACSHL-HAPMAPHapMap-YRINA18853YOR018.03r23_ch8_YRI_illumina:infinium_genotyping_2.0.066689
5258ss69046304A/GCSHL-HAPMAPHapMap-YRINA18853YOR018.03chr8-HapMap-YRI
5265ss14897715A/ACSHL-HAPMAPHapMap-YRINA18914YOR028.01r23_ch8_YRI_illumina:infinium_genotyping_2.0.066689
5265ss69046304A/GCSHL-HAPMAPHapMap-YRINA18914YOR028.01chr8-HapMap-YRI
5267ss14897715A/ACSHL-HAPMAPHapMap-YRINA18913YOR028.03r23_ch8_YRI_illumina:infinium_genotyping_2.0.066689
5267ss69046304A/GCSHL-HAPMAPHapMap-YRINA18913YOR028.03chr8-HapMap-YRI
5270ss14897715A/ACSHL-HAPMAPHapMap-YRINA19092YOR040.03r23_ch8_YRI_illumina:infinium_genotyping_2.0.066689
5270ss69046304A/GCSHL-HAPMAPHapMap-YRINA19092YOR040.03chr8-HapMap-YRI
5274ss14897715A/ACSHL-HAPMAPHapMap-YRINA19139YOR043.01r23_ch8_YRI_illumina:infinium_genotyping_2.0.066689
5274ss69046304A/GCSHL-HAPMAPHapMap-YRINA19139YOR043.01chr8-HapMap-YRI
5284ss14897715A/ACSHL-HAPMAPHapMap-YRINA19204YOR048.02r23_ch8_YRI_illumina:infinium_genotyping_2.0.066689
5284ss69046304A/GCSHL-HAPMAPHapMap-YRINA19204YOR048.02chr8-HapMap-YRI
5285ss14897715A/ACSHL-HAPMAPHapMap-YRINA19203YOR048.03r23_ch8_YRI_illumina:infinium_genotyping_2.0.066689
5285ss69046304A/GCSHL-HAPMAPHapMap-YRINA19203YOR048.03chr8-HapMap-YRI
5286ss14897715A/ACSHL-HAPMAPHapMap-YRINA19211YOR050.01r23_ch8_YRI_illumina:infinium_genotyping_2.0.066689
5286ss69046304A/GCSHL-HAPMAPHapMap-YRINA19211YOR050.01chr8-HapMap-YRI
5290ss14897715A/ACSHL-HAPMAPHapMap-YRINA19206YOR051.02r23_ch8_YRI_illumina:infinium_genotyping_2.0.066689
5290ss69046304A/GCSHL-HAPMAPHapMap-YRINA19206YOR051.02chr8-HapMap-YRI
5304ss14897715A/ACSHL-HAPMAPHapMap-YRINA19154YOR072.01r23_ch8_YRI_illumina:infinium_genotyping_2.0.066689
5304ss69046304A/GCSHL-HAPMAPHapMap-YRINA19154YOR072.01chr8-HapMap-YRI
5309ss14897715A/ACSHL-HAPMAPHapMap-YRINA19144YOR074.03r23_ch8_YRI_illumina:infinium_genotyping_2.0.066689
5309ss69046304A/GCSHL-HAPMAPHapMap-YRINA19144YOR074.03chr8-HapMap-YRI
6331ss14897715A/ACSHL-HAPMAPHapMap-JPTNA19012JA19012r23_ch8_JPT_illumina:infinium_genotyping_2.0.066689
6331ss69046304A/GCSHL-HAPMAPHapMap-JPTNA19012JA19012chr8-HapMap-JPT
Genotype data submitted for393 samples from378 individualsIndividual with multiple genotypes submission:276

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqwithHapMapFreqUNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .