Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.000448337443471005 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:151090424G>AN/A show variant in all transcripts   IGV
HGNC symbol P2RY12
Ensembl transcript ID ENST00000302632
Genbank transcript ID NM_022788
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.12177C>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs3732765
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC62952017726472
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)1.4740.42
1.9710.409
(flanking)-1.820.058
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased12181wt: 0.6127 / mu: 0.6172 (marginal change - not scored)wt: AGCATTCCCATCACATCGCAAACCTCTCATGGTGAAGTCAT
mu: AGCATTCCCATCACATTGCAAACCTCTCATGGTGAAGTCAT		 gcaa|ACCT
distance from splice site 12056
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 301 / 301
chromosome 3
strand -1
last intron/exon boundary 287
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 1029
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 12177
chromosomal position
(for ins/del: last normal base / first normal base)		 151090424
original gDNA sequence snippet CATCAGCATTCCCATCACATCGCAAACCTCTCATGGTGAAG
altered gDNA sequence snippet CATCAGCATTCCCATCACATTGCAAACCTCTCATGGTGAAG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MQAVDNLTSA PGNTSLCTRD YKITQVLFPL LYTVLFFVGL ITNGLAMRIF FQIRSKSNFI
IFLKNTVISD LLMILTFPFK ILSDAKLGTG PLRTFVCQVT SVIFYFTMYI SISFLGLITI
DRYQKTTRPF KTSNPKNLLG AKILSVVIWA FMFLLSLPNM ILTNRQPRDK NVKKCSFLKS
EFGLVWHEIV NYICQVIFWI NFLIVIVCYT LITKELYRSY VRTRGVGKVP RKKVNVKVFI
IIAVFFICFV PFHFARIPYT LSQTRDVFDC TAENTLFYVK ESTLWLTSLN ACLDPFIYFF
LCKSFRNSLI SMLKCPNSAT SLSQDNRKKE QDGGDPNEET PM*
mutated AA sequence N/A
speed 1.00 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project