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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs346556          
refSNP ID: rs346556
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:79/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_004799.2:c.-37+4384A>G
NM_007323.1:c.-37+4384A>G
NM_007324.2:c.-37+4384A>G
NT_032977.8:g.22658449A>G
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 ss2033520 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs346556 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
ss440720KWOK|OVLP-000621-351645fwd/BC/Tagatcaaacagctaagcaagctgcctcttcgaaaaggcacccattttccatctatccctt06/30/0010/10/0379Genomic99 %
ss856859SC_JCM|AL122009.3_51907fwd/BC/Tagatcaaacagctaagcaagctgcctcttcgaaaaggcacccattttccatctatccctt07/27/0010/10/0385Genomicunknown
ss907162KWOK|OVLP-000804-180593fwd/BC/Tagatcaaacagctaagcaagctgcctcttcgaaaaggcacccattttccatctatccctt09/01/0010/10/03117Genomic99 %
ss2033520KWOK|OVLP-000925-709087fwd/BC/Tagatcaaacagctaagcaagctgcctcttcgaaaaggcacccattttccatctatccctt10/06/0010/10/03117Genomic99 %
ss16426372CSHL-HAPMAP|CSHL-HuAA-200402.chr1.NT_032977.6_14249601rev/TA/Gaagggatagatggaaaatgggtgccttttcgaagaggcagcttgcttagctgtttgatct02/17/0403/04/04120Genomicunknown
ss20455877SSAHASNP|WGSA-200403-chr1.chr1.NT_032977.6_14249601rev/TA/Gaagggatagatggaaaatgggtgccttttcgaagaggcagcttgcttagctgtttgatct03/18/0403/18/04121Genomicunknown
ss78182487HGSV|Cor12878_SNV_20070510.chr1_52398551rev/TA/Gaagggatagatggaaaatgggtgccttttcgaagaggcagcttgcttagctgtttgatct10/17/0710/18/07129Genomicunknown
ss84806911HGSV|Cor19129_SNV_20070510.chr1_52398551rev/TA/Gaagggatagatggaaaatgggtgccttttcgaagaggcagcttgcttagctgtttgatct12/06/0712/08/07130Genomicunknown
ss87423120BCMHGSC_JDW|JWB-0044738rev/TA/Gaagggatagatggaaaatgggtgccttttcgaagaggcagcttgcttagctgtttgatct02/26/0802/26/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs346556|allelePos=5001|totalLen=6821|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 GATGAACCTT GGGTGTATAC CTCAGACAAC ACAGTTGCTt catcaggacc tcttgggtgt
 cctcaacctt ggcaaaataa actttctaaa taaactgaga cctgtcccag atGTTGGGAC
 AATTTAGTTC CTCTTCAAAG ACTCAACTTC CTGGTCATAA GTTGTAAACA ATCCTACCCC
 TTCTTCTGTT AAGCCTAACT GTTTCTTCTT TACCGCCACC CCTTCACAAA TCACACTTTT
 ACcctatttg gaaaagttta agccttggcc aatcgggatc agcttagatt gtgcagtccg
 acccatccaa catgggaaag acacagaaac aggaactgtg ttagggttaa aaaccccttc
 cttcgtttgg tgtgctcttg tatttgtaac aggcataagc agcacccttc ggcagaagta
 aagttccttg ctgagaaaac ttctaaatgc gggtttcttt tcactacact gagcacttgt
 ttccaacaaa tctgggggct tgtccaggat cccattctcc tttgggaggg gctagtgatt
 atctttcatg gggagacgca tcccactgcc tcgttgtggt ggccccagga gtggaggatc
 gaatctcgcc caaagtgacg aataaatccg gactctcagc aacatgggct atagggagga
 tccctaagaa ttcctcagtg accagataac tctgtgcata gaccaaggta agaaacgtca
 ctattggggc aacaaagtat tccttggtgg ttgggatctc tgtaggttga aagtgtgtga
 gtgagacacg ccattgggtg cgaagcgagt gtggagtccg gactcggttc tgtggtcacc
 ttgtaggtct tagggcagtt ttccagtcag gggattacac caacccacca atactaagag
 gaacctaaaa ttctcacgag ggaagcagcc aataaggaca aagtgggtgc tcacaagagt
 gcaagaaacc tccagtggga aaaggggagg ttcagcctct aggacacggg agtgcaagaa
 atctctaata cgagacattt agcctcacca accgccagga tgggaaatac cccaagtaag
 acagggacta taaaaggcca agcagacaat aaaattcccc ctgacagtcc cctatgcctt
 atgttaaaat actggaagga taatgaaagg acaaaacaca agaaaagaca gcgtatgata
 aagtattgct gtttttattt ggactaagga acccaccctc agaccttcag tcttttggcc
 agagtttggg taaaatgagg actggatatg tcaactcctg atccagtaag tcaatgataa
 aagtccagtt tctcaagagg agacagatga tgctctatgt tggagaaaaa gacctgtcct
 tctctatccc ctaaaggatg agaaagcaaa gccaaattca atacctccca aagacgacct
 acctaagtca aattctgtat ctaaagatgc atgggatcct ctagaccacc ttcccctgcc
 tacccctcca ccctaagtgg aacactcagt ccttcccctc cctacccctc caccccaagc
 tgaacactca gttcctctcc catataaccc tgccccatgg gccatgccac cccacatccc
 cgctggacag ccacctgaac atgccccttc ctcaggaaag ctccaatggg aaatagacaa
 tgccaaaggg atatccaaaa ctttcctttc ctcccttcct caaagaagtc taccccaacc
 ctttttccct taagggaagt accactagga ggaggggata ttggctttgt aaatgccccc
 ttaactagtt cagaggttag aaatctaaaa aaggaactca aaccactgtt agacgaccct
 tttggaatcg cagatcaaac tggacagtct ctggagccac aactgtacac ttgggctgaa
 ttaatgtcta tcctagttat tctcttctca ggaaaggaaa gaaccatgat cttcagggct
 gccatgatag tctgggagcg caaacaccct cctgttcaaa atgtccttgc agcagagcat
 aaattcctgg cccaggaccc tcagtgggat aacaataatg aagcccactg agaaaacatg
 agagatctca gggacatgat aattaaaggg atttgggaat cagctccttg aaccctaatg
 tttcctgagc atttaatgta caacaaggga aagatgaaag gcccatagaa ttcttagact
 taaggaacag ataagaaaat atgcaggttt agacatagag gacccactgg gacaaggaat
 gttaaagctc cactttgtca ccaatagttg gccagacatt acaaaaaaaa tacaaaagat
 agaaaattgg aaagaccatc ccatagagga acttttaaga ggcccaaaag gtgtatgtag
 agagggatga ggaaaggcag aagcaaaagg caaagattat gcctgtccac cctacaacag
 ggaactcttc aacagggagc ccaggagaat agaacttgta gaccttctaa gcacctggct
 gtctgacccc tatacaggaa gcaaagggat gaaacctgag agtcagggaa cagggagggg
 gagaagggaa aacagatgtt tctagtgtgg aaagccagga cattttaaga gggaatgtcc
 tgaatgggag agggaaaaga aagtccttcc actcatgaca tttgaagaag aatagcgggg
 tcaggtactc tacatcttcc atcttgagtc ccaccaagag cccctgataa atttaatggt
 gggacccaaa tcagagatag tcactttctt agtcgattca ggagcagctc gctttcccta
 tgttttctcc catcaggctt agcattttca gcagaaaacc atactgtctc agggtttata
 ggggaaggat tcagggcaaa aattctagag gaaaccaaag tcaaatataa gaataagtcg
 gccactacta agttcttatt aattcccaaa gcaggaacta atttattagg aagggactta
 atgttaaggt taggcatagg cctatacgtt aatcagggaa aacttacttc cttaaacctg
 gtcaccactt cggaagaaag ccaaatccat cccgacatat ggtcaaagga aggaaatcga
 ggaaagctac aggttcctcc aatccatgcc aaattaaaaa ctaccaggga agcagtaaaa
 acaaaacaat accctattcc cttggaagcc aggataggtt taaaacatat aattgaaagc
 cttgtccacg atggactcct tgaaccctgt atgccccctt ataacactcc aatattgcct
 gtaaggaagc cagacaggtc atcccggcta gtgcaagacc tccaggctat taatcaaata
 gttcaaaccg cccaccctgt tgttcccaat ccttacacca ttgtcagtag aatcccatac
 aaccaccaat ggttcatggt gatagattta aaagatgcct tttgggcttg cccttcagca
 gaagatagtc gggacatgtt tgcctttgag taggaggacc ctgactctga tagaaaacaa
 cagtactgat ggacagtctt gccccaaggg ttcacagagt ccccagatct atttggtcaa
 atattagaac aagttctaga aaatttctcc ctgccttcat ccatatgcct tctccaatat
 gtggatgacc tgctcatctc aggagataac aaggatcaag taacagcaat ttcagttaac
 ttcctaaatt tcctaaggga acaagggtta caggtctcaa agaataaact ccaattcgta
 gaacctgagg tgaaatacct aggacaccta atcagtaaag gcaaacgaaa gataggaccc
 aaacaaattg aaggtatggt atctttgcct ttacctgaaa caaagcagga acttaggaaa
 ttctcaggat tggttggata ttgtcatctg tggattaact cttatgcctt aaaaacaaag
 cccctatatc aaaaactcac tcaagaaaga ccagaccctg taaaccctcc tctggacccc
 atcagagatc caacaggtag aagaaataaa acacctactt gtaacagccc ccattctggc
 cttgccctcc ttagaacagc cattccacct ttttgttaat ataagcaaag gagtggcctt
 aggagtactc acccacaaac acggaggcca ccaatggccc gtagccttcc tgtcaaaaat
 ccttgacccc gtaacccgtg gatggcccga atgtgtccaa tccatagcag caactgcctt
 gctaacagaa gaaagcagga aaataacctt tgggggaaac ctcatcataa gtacccctca
 tcaagtcaga actattctta atcagaaggc agagagatgg cttactgact caagaatttt
 aaaatatgaa gttatcttat tagagaggga tgacctaaca ctaaccactg acaattcact
 caaccccgct gctttcctaa caggaaatcc aaacccagaa gaatctacgc ataaatgctt
 agatctaatc agttctcaaa ctagagtcag actggatcta agcaaaaccc ctttccaaac
 agggcatcac ctctttacag atggttcccc ccggatcatt gaaggaaaaa ggtacaacag
 gtactccaca gttgatgggg aaatcctcac agaggtagag tcaggaagac tgccaaataa
 ctggtctgcc caaactgtga attctttgca ttaaaccaag ccttaaaatc cctgcagaat
 caagaaggaa ctatttacac tgactccaag tatgccttca gagtagtcca tacctttgga
 aaaatctgga ctgaacgagg cttcatcaat agtaagggcc aagatttggt ccacaaaaaa
 ttaattttgc aagtattaga aaatcttcag ctgccagaag aaattgcagt tgtccatgtc
 ccaggacacc aaaagaatcc atcttttgaa agccagggaa ataaccttgc agatcaaaca
 gctaagcaag ctgcctcttc
 Y
 gaaaaggcac ccattttcca tctatccctt tgtctccccc tccagctgcg atccccatct
 tctcccacgt agacctttct ctaaagaaaa taggagctca ggagagccca gagggaaagc
 aggcattacc agatggaagg gaaatgctgt ctaagcccct catgagggaa atattgtcac
 agcttcatcc aggaactcac tggggtcctc aagctatgtg caatgtagcc ctcagagtct
 atgggtgtat agagtactag gcaagtggaa gatggttgca tcatgtgcag aaaaactagt
 aaggaaaccc taaagaagca gcctcccacg ggaagaaacc cagggttaag gccattccaa
 agcatccaag ttgattaaac tgaaatgccc ccaatcggct gcctcaagta tttactagtc
 atagtagacc atctcaccca ctgggtagaa gccataccct tcccaagcac aactgccagt
 aatgtagtca aagcactgtt ggaacatatc atatccaggt ttggactaat agagaacact
 gattcagaca atgagactca cttcactgca cacatcatta aggggctaac ccaagcacta
 ggaataaaat gggaatatca tactccctgg catccacctt catcagggag ggtagaaaga
 attaatcaaa ctctaaaaaa tcacctaacc aaattaatct tggaaatcca gttaccatgg
 acaaaatgcc ttcccattgc cttactaaga atccaaactg cccctcaaaa agatcttggc
 ctggcagggt gtggtggctc acacctgtaa tcccagcact ttgggaggcc aaggagggtg
 gatcacaagg tcaggagttc gagaccagcc tggccaatat ggtgaaaccc cgtctctact
 aaaaatacaa aaattagccg ggcgtggtgg ctggtgcctg tagtcccagc tactcaggag
 gccaaggcag gagaattgct tgaacctggg aggtgcaggt tgcagtgagc caagatcact
 gcactccagc ccgggcgaca gagtaagact ctgCcacaca cacacacaca cacacacaca
 cacacacaca cacacacaca cacacacaca cacaaaagat cttggcctga aatgctctat
 gggctgcctt atctaaattc cactactgac cttcccacat ttgaaacaaa agatcagttt
 ctaaaaatat atatatttgg tctgtcttcc accctttcct ccctcaggac tcaaggcctc
 ctagcgcaaa ctccacccct cgaattccca attcaccgac accagcccag agatcacgtc
 cttatcatat gttggaaaga aggaaagctt gaaccaacct gggaaggacc ttatctaata
 ctccttatct aatactccta accactgaga cagcaatctg aacggccaaa aaagcatgga
 cccaccacGG TCAACATAGC AAGACCCCAT CTCAAAAACA AAACAAAGAC Tgggcacggt
 ggctcatgcc tgtaatccca gcactttggg aggacaaggg ggaggattgt ttgagctcag
 gagttcaaga ccagtctggg cagcatactg aggctctatc tctaagctaa acaaaacaaa
 aaAAGAATTG ATAAAATGTT TTGCCAAGTC TGATGACGTA CAACATTTTT TGTTTGTTTG
 CTTGGGAGTG GAACCTTTGG GTCTGCCTCC GCATTGCAGT ACTATCTCCC CACTTGCTAA
 CACTCATCCC AGGTTTATGC TTTTCTTAAG AGGTGTTCAA CAATTTAATA CCTACTAGTT
 CAGCTTTTTC ATTGAAGAGG

  GeneView back to top
GeneView via analysis of contig annotation: ZFYVE9 zinc finger, FYVE domain containing 9
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_032977->NM_004799
svfunction
referenceNT_032977->NM_007323
svfunction
referenceNT_032977->NM_007324
svfunction
HuRefNW_001838579->NM_004799
svfunction
HuRefNW_001838579->NM_007323
svfunction
HuRefNW_001838579->NM_007324
svfunction
CeleraNW_921351->NM_004799
svfunction
CeleraNW_921351->NM_007323
svfunction
CeleraNW_921351->NM_007324
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_032977->NM_004799->NP_00479022658449forwardintron
referenceNT_032977->NM_007323->NP_01556222658449forwardintron
referenceNT_032977->NM_007324->NP_01556322658449forwardintron
HuRefNW_001838579->NM_004799->NP_00479030991625reverseintron
HuRefNW_001838579->NM_007323->NP_01556230991625reverseintron
HuRefNW_001838579->NM_007324->NP_01556330991625reverseintron
CeleraNW_921351->NM_004799->NP_00479026833961forwardintron
CeleraNW_921351->NM_007323->NP_01556226833961forwardintron
CeleraNW_921351->NM_007324->NP_01556326833961forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs346556 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_001838579.23099162550803097plusCalt_assembly_8HuRefHuRefview5000
1NW_921351.12683396150973103minusGalt_assembly_1CeleraCeleraview5000
1NT_032977.82265844952459118minusAref_assemblyreferencereferenceview5000

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_032977 AC026909 AL122009.3 AL122009.4
dbSNP Blast Analysis
GenBank HTGS Draft:
AC026909.2

  Population Diversity back to top
There is no frequency data.

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

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Revised: May 25, 2006 1:38 PM .