SNPJam Report for PTGS1

Showing coding SNPs for PTGS1 (Gene ID: 5742)

Show all SNPs for this gene at dbSNP

This SNP viewer is in beta and your feedback is appreciated!

This SNPJam view is a snapshot of the information available at dbSNP and HapMap. It has been reformated to include the information most relevant to drug and metabolomics research.

Please note that population frequency data is updated on a nightly basis and may not be present if this gene was recently annotated.

Show all non-coding SNPs

[Top]

RS ID: 77027063 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
9 125152526

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_080591 Link_out NP_542158 Link_out 2 D [Asp] / G [Gly]
missense NM_000962 Link_out NP_000953 Link_out 2 D [Asp] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTCTGCAGCATCACAACTGCTAGGCTGCCCAACACTCTCCATCCTAGCTCAGAAGGGACTCCCACTGGAAGCTCTTGTCCCAGGAAC
TTACCCAGGCTCCAGGACAGCCTGGCCTGGCTCCCAGACCACTGCTGTGCTTCTCTCTCGGCAGATCGGTGGGGGCAGGAACATGGACCA
CCACATCCTGCATGTGGCTGTGG A/G TGTCATCAGGGAGTCTCGGGAGATGCGGCTGCAGCCCTTCAATGAGTACCGCAAGAGGTTTG
GCATGAAACCCTACACCTCCTTCCAGGAGCTCGTAGGTGAGCAGCTGTTTCCTGGATGCAGTCCCTGCCCTTGAGGGACTGGCAGCAAAG
TCAGGGAGACATCAAGGAAATAGAACGGGACAATACATGCGGCAATGT-3'

[Top]

RS ID: 71742334 Link_out

Alleles: (LARGEDELETION)/-

Validation:

Not Completed

Details:

Chromosome Reference Position
9 125141199

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_080591 Link_out NP_542158 Link_out 2 Not Applicable
frameshift NM_000962 Link_out NP_000953 Link_out 2 Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGTTTGTCAATGCCACCTTCATCCGAGAGATGCTCATGCGCCTGGTACTCACAGGTGGGTGTGGGGCAGGGCCCCCTGACCTGGGGG
AGCAAGCAAGCCTGCTAGTCCTTTTGGATTCTTGGCATCTGATAAGGGTAGTGGGTGGGGAGAGTCTATGATGCCTGATAAAATAAGCCC
CAACCCAGGAGGAGGCAAGAACTGGGATGGAGCTGGGGGTGGAAACACCCTTGTCACCGTTATTTTTGCTCTCTGCAGTGCGCTCCAACC
TTATCCCCAGTCCCCCCACCTACAACTCAGCACATGACTACATCAGCTGGGAGTCTTTCTCCAACGTGAGCTATTACACTCGTATTCTGC
CCTCTGTGCCTAAAGATTGCCCCACACCCATGGGAACCAAAGG (LARGEDELETION)/- GAAGAAGCAGTTGCCAGATGCCCAGCTC
CTGGCCCGCCGCTTCCTGCTCAGGAGGAAGTTCATACCTGACCCCCAAGGCACCAACCTCATGTTTGCCTTCTTTGCACAACACTTCACC
CACCAGTTCTTCAAAACTTCTGGCAAGATGGGTCCTGGCTTCACCAAGGCCTTGGGCCATGGGGTGAGTACCTAGGAGGGGCTCAGGACT
GCTCTGGACCTAATTTGGCACGCGTATGTCATCGACAGTGGGCCGGCACCCTGGTGACCTGAGGGAACCCCTCTCTGTCCACAGGTAGAC
CTCGGCCACATTTATGGAGACAATCTGGAGCGTCAGTATCAACTGCGGCTCTTTAAGGATGGGAAACTCAAGTACCAGGTAGTGCTGGGC
CAGGGGGTAGG-3'

[Top]

RS ID: 61757787 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
9 125144007

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_080591 Link_out NP_542158 Link_out 2 D [Asp] / G [Gly]
missense NM_000962 Link_out NP_000953 Link_out 2 D [Asp] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTTCACCAAGGCCTTGGGCCATGGGGTGAGTACCTAGGAGGGGCTCAGGACTGCTCTGGACCTAATTTGGCACGCGTATGTCATCGA
CAGTGGGCCGGCACCCTGGTGACCTGAGGGAACCCCTCTCTGTCCACAGGTAGACCTCGGCCACATTTATGGAGACAATCTGGAGCGTCA
GTATCAACTGCGGCTCTTTAAGG A/G TGGGAAACTCAAGTACCAGGTAGTGCTGGGCCAGGGGGTAGGGCAGAGGGAGGGGTCTCCCA
TGGTCTTCCCTGGCAAAGACTGCTTGGGGCGGGGGTCTGGGTCATGTCCTGAGAGGGCCAACCACGGGAGTGGGAAGCTTGTGCCAGGAG
CGACAGTATACGCTGGGAGGAGGCAGCAGGTATGAGAAGCCAGGGAGG-3'

[Top]

RS ID: 60893133 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
9 125145942

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_080591 Link_out NP_542158 Link_out 2 R [Arg] / L [Leu]
missense NM_000962 Link_out NP_000953 Link_out 2 R [Arg] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTGGGTGACCCCCAACCCCAGGTTGCCAGGTGGCCCCATCCCACAGGTGCTGGATGGAGAAATGTACCCGCCCTCGGTAGAAGAGGC
GCCTGTGTTGATGCACTACCCCCGAGGCATCCCGCCCCAGAGCCAGATGGCTGTGGGCCAGGAGGTGTTTGGGCTGCTTCCTGGGCTCAT
GCTGTATGCCACGCTCTGGCTAC G/T TGAGCACAACCGTGTGTGTGACCTGCTGAAGGCTGAGCACCCCACCTGGGGCGATGAGCAGC
TTTTCCAGACGACCCGCCTCATCCTCATAGGTGAGGACTCCAGACCTGCCCTGCCCTGGAAGGTCATTCCCTCCATCCTGAGAAGTTGGG
GGCGGGGGGGTACTTAGAGGTGGAGGCTGGGATTAGAATCCTCACCCTTCTGCTTAGTGGCTAGAAGACCTTGAGCAGGCCCCTCAACCT
CTGTGAGCCTCGGTCTCCAAATCTGTACGTTGGGGTGAACGATGATTGTAAGGATTTATTGAGATCATGAATGGGAAGGCAACTAGCACA
TAGCAGGCCTTCAGAAAATAGATGACTGTGATGGTTGATTATTAGCTGGGTGACTCAGCACATTTGATTAGCCACCCTGAGTCTCGGTTT
CCCCTGTGTGCT-3'

[Top]

RS ID: 34025875 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
9 125148758

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_080591 Link_out NP_542158 Link_out 2 V [Val] / E [Glu]
missense NM_000962 Link_out NP_000953 Link_out 2 V [Val] / E [Glu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTTGGCTGACCCTATTTCCAATCCTGCCCTGCCCAGGGGAGACCATCAAGATTGTCATCGAGGAGTACG A/T GCAGCAGCTGAGT
GGCTATTTCCTGCAGCTGAAATTTGACCCAGAGCTGCTGTTCGGTGTCCAGTTCCAATACCGCAACCGCATTGCCATGGAGTTCAACCAT
CTCTACCACTGGCACCCCCTCATGCCTGACTCCTTCAAGGTGGGCTCCCAGGAGTACAGCTACGAGCAGTTCTTGTTCAACACCTCCATG
TTGGTG-3'

[Top]

RS ID: 10985630 Link_out

Alleles: C/T

Validation:

  • By hap map
  • By cluster

Details:

Chromosome Reference Position
9 125149004

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_080591 Link_out Not Applicable Not Applicable Not Applicable
missense NM_000962 Link_out NP_000953 Link_out 2 A [Ala] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCTGCTGTTCGGTGTCCAGTTCCAATACCGCAACCGCATTGCCATGGAGTTCAACCATCTCTACCACTGGCACCCCCTCATGCCTGA
CTCCTTCAAGGTGGGCTCCCAGGAGTACAGCTACGAGCAGTTCTTGTTCAACACCTCCATGTTGGTGGACTATGGGGTTGAGGCCCTGGT
GGATGCCTTCTCTCGCCAGATTG C/T TGGCCGGGTAAGCCCCAGAGGAGTGCTGGTGAGGGCAGGTGGGCTGAGGGATCCAGCAGACC
TGGGTCCAAATTCCAGGTTCTTCTTCTGTAAAATGGGGCTGATGTCACTTCTACAGGGCAGTTGTAAGCATTCCTGTGTGAGTTCATTGG
TTCATTTGTCCATTCCACAATACCAGACATTACTCCAGGTACTGGAGATGTAGTGGGAACAAGACTTTTGTGGTTCTTGGCTCATCTTTT
AGTGCTCCCACCCTAGAAAGTGATGGCAGTCATACGACAGCTGACAGCATTAGGGCCCTTAC-3'

[Top]

RS ID: 10306140 Link_out

Alleles: G/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
9 125141147

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_080591 Link_out NP_542158 Link_out 2 R [Arg] / L [Leu]
missense NM_000962 Link_out NP_000953 Link_out 2 R [Arg] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAAGCCTGCTAGTCCTTTTGGATTCTTGGCATCTGATAAGGGTAGTGGGTGGGGAGAGTCTATGATGCCTGATAAAATAAGCCCCAA
CCCAGGAGGAGGCAAGAACTGGGATGGAGCTGGGGGTGGAAACACCCTTGTCACCGTTATTTTTGCTCTCTGCAGTGCGCTCCAACCTTA
TCCCCAGTCCCCCCACCTACAACTCAGCACATGACTACATCAGCTGGGAGTCTTTCTCCAACGTGAGCTATTACACTC G/T TATTCTG
CCCTCTGTGCCTAAAGATTGCCCCACACCCATGGGAACCAAAGGTAAAATGGGGTGAGGAGCTGGGCCTGGGGATTACAGGAGGTGCTCA
GTTCTTCTCTTTGGGAAAAATCAGGCGAAGAACAATTATTGACCCAATTCTGCAGATGGCTAGACCAAGGCAAGACATATGACATGTCCA
GAGCCTGGGCTGAGAACAGGCAAGGGCAGCAGAGGGTCTTGCCTGAGGTCACCTAGAGTCAGACCAAT-3'

[Top]

RS ID: 4836884 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
9 125145994

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000962 Link_out NP_000953 Link_out 3 G [Gly] / G [Gly]
coding-synonymous NM_080591 Link_out NP_542158 Link_out 3 G [Gly] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GATGGAGAAATGTACCCGCCCTCGGTAGAAGAGGCGCCTGTGTTGATGCACTACCCCCGAGGCATCCCGCCCCAGAGCCAGATGGCT
GTGGGCCAGGAGGTGTTTGGGCTGCTTCCTGGGCTCATGCTGTATGCCACGCTCTGGCTACGTGAGCACAACCGTGTGTGTGACCTGCTG
AAGGCTGAGCACCCCACCTGGGG C/T GATGAGCAGCTTTTCCAGACGACCCGCCTCATCCTCATAGGTGAGGACTCCAGACCTGCCCT
GCCCTGGAAGGTCATTCCCTCCATCCTGAGAAGTTGGGGGCGGGGGGGTACTTAGAGGTGGAGGCTGGGATTAGAATCCTCACCCTTCTG
CTTAGTGGCTAGAAGACCTTGAGCAGGCCCCTCAACCTCTGTGAGCCT-3'

[Top]

RS ID: 3842803 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
9 125154535

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_080591 Link_out NP_542158 Link_out 3 P [Pro] / P [Pro]
coding-synonymous NM_000962 Link_out NP_000953 Link_out 3 P [Pro] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTTTCCTCTTGACCCTTTTCCCCAGTGCCAACCATGCCAAATTCTAGGGCACATGCTCAGTTGCTCAAGTTAGTCTCCTGGAGTCCC
TATTATCCCCAGAAAAAGGTGGACCTGGAAGGGTCCCGCCCCAGGTTGACCTTAATGGCATCATGGATCTGATGCTAGCATTTCCCCTTA
TCTCCTTGTAGGAGAGAAGGAGATGGCAGCAGAGTTGGAGGAATTGTATGGAGACATTGATGCGTTGGAGTTCTACCC C/T GGACTGC
TTCTTGAAAAGTGCCATCCAAACTCTATCTTTGGGGAGAGTATGATAGAGATTGGGGCTCCCTTTTCCCTCAAGGGTCTCCTAGGGAATC
CCATCTGTTCTCCGGAGTACTGGAAGCCGAGCACATTTGGCGGCGAGGTGGGCTTTAACATTGTCAAGACGGCCACACTGAAGAAGCTGG
TCTGCCTCAACACCAAGACCTGTCCCTACGTTTCCTTCCGTGTGCCGGATGCCAGTCAGGATGATGGG-3'

[Top]

RS ID: 3842802 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
9 125154520

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000962 Link_out NP_000953 Link_out 3 A [Ala] / A [Ala]
coding-synonymous NM_080591 Link_out NP_542158 Link_out 3 A [Ala] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGGGGCAATTTGTGCTTTTCCTCTTGACCCTTTTCCCCAGTGCCAACCATGCCAAATTCTAGGGCACATGCTCAGTTGCTCAAGTTA
GTCTCCTGGAGTCCCTATTATCCCCAGAAAAAGGTGGACCTGGAAGGGTCCCGCCCCAGGTTGACCTTAATGGCATCATGGATCTGATGC
TAGCATTTCCCCTTATCTCCTTGTAGGAGAGAAGGAGATGGCAGCAGAGTTGGAGGAATTGTATGGAGACATTGATGC A/G TTGGAGT
TCTACCCTGGACTGCTTCTTGAAAAGTGCCATCCAAACTCTATCTTTGGGGAGAGTATGATAGAGATTGGGGCTCCCTTTTCCCTCAAGG
GTCTCCTAGGGAATCCCATCTGTTCTCCGGAGTACTGGAAGCCGAGCACATTTGGCGGCGAGGTGGGCTTTAACATTGTCAAGACGGCCA
CACTGAAGAAGCTGGTCTGCCTCAACACCAAGACCTGTCCCTACGTTTCCTTCCGTGTGCCGGATGCC-3'

[Top]

RS ID: 3842800 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
9 125152608

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000962 Link_out NP_000953 Link_out 3 S [Ser] / S [Ser]
coding-synonymous NM_080591 Link_out NP_542158 Link_out 3 S [Ser] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCCAGCCAGGGCAACAGAGTGAGACAGTGTCTAAAAAAAAACCCACAAAAAAAAAATGAGGAAGCTGAGACTCAGAGGGGCTTCCTG
AGAGAGCATGACAGCAGCAGGCCCGGGGCAGGTCTGCAGCATCACAACTGCTAGGCTGCCCAACACTCTCCATCCTAGCTCAGAAGGGAC
TCCCACTGGAAGCTCTTGTCCCAGGAACTTACCCAGGCTCCAGGACAGCCTGGCCTGGCTCCCAGACCACTGCTGTGCTTCTCTCTCGGC
AGATCGGTGGGGGCAGGAACATGGACCACCACATCCTGCATGTGGCTGTGGATGTCATCAGGGAGTCTCGGGAGATGCGGCTGCAGCCCT
TCAATGAGTACCGCAAGAGGTTTGGCATGAAACCCTACACCTC C/T TTCCAGGAGCTCGTAGGTGAGCAGCTGTTTCCTGGATGCAGT
CCCTGCCCTTGAGGGACTGGCAGCAAAGTCAGGGAGACATCAAGGAAATAGAACGGGACAATACATGCGGCAATGTGTAACAACCAGACT
TATAATGGGCGTGGAAGTGCTGTGCCAGGGTGGTAAATAAGCCTGCTTGGGGAGAGAAGGTGACTTTTCAGCTGGGTTTGGAGAACAAAT
GGCATTTTCAGTGGGAGAAGAGAGGGAGGAGTGTTTTAGGCAGAGCAATAGAAAGTACAAAGGCTGCCGGGCAAGGTGGCTCGCGCCTGT
AATCCTAGCACTTTGGGAGGCTCAGGCGGGTGGATCACGAGGTCAGGAAATCGAGACCATCCTGGCTAACACGATGAAACCCCGTCTC-3
'

[Top]

RS ID: 3842795 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
9 125143952

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000962 Link_out NP_000953 Link_out 1 G [Gly] / S [Ser]
missense NM_080591 Link_out NP_542158 Link_out 1 G [Gly] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCAAGATGGGTCCTGGCTTCACCAAGGCCTTGGGCCATGGGGTAGACCTC A/G GCCACATTTATGGAGACAATCTGGAGCGTCAG
TATCAACTGCGGCTCTTT-3'

[Top]

RS ID: 3842792 Link_out

Alleles: A/C

Validation:

  • By frequency
  • By hap map
  • By cluster

Details:

Chromosome Reference Position
9 125143707

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000962 Link_out NP_000953 Link_out 2 K [Lys] / T [Thr]
missense NM_080591 Link_out NP_542158 Link_out 2 K [Lys] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCCAGATAGGAGAAGCTACTGCTGTTTCCTACCCCCCAACCAGGGAAGAAGCAGTTGCCAGATGCCCAGCTCCTGGCCCGCCGCTTC
CTGCTCAGGAGGA A/C GTTCATACCTGACCCCCAAGGCACCAACCTCATGTTTGCCTTCTTTGCACAACACTTCACCCACCAGTTCTT
CAAAACTTCTGGCAAGATGGGTCCTGGC-3'

[Top]

RS ID: 3842790 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
9 125140287

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_080591 Link_out NP_542158 Link_out 3 C [Cys] / C [Cys]
coding-synonymous NM_000962 Link_out NP_000953 Link_out 3 C [Cys] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAACCCTGAAGCCCTGGCACCCAGTGATTCAGGACGGAGCTGCGACTTAAGTCCATGCCTCTGGCCCCTCATTCCCCCATCAGGGGC
TAGATGGGGGTCAGGAGGCCACCCTAGCATGGTCTCTGACCTCCATTTCTCACCCACAGTGAATCCCTGTTGTTACTATCCATGCCAGCA
CCAGGGCATCTGTGTCCGCTTCGGCCTTGACCGCTACCAGTGTGACTGCACCCGCACGGGCTATTCCGGCCCCAACTG C/T ACCATCC
GTGAGCTGGGCCTTCAGCCCTCACTCCTTCCGTCTTGAGCCCTTCTGCTCCCCGGGCCCTTTCTCCTAGACCCTAACTTCCTACCCTCCT
CTCTGACCATGGCCCTGTTCTCCTTCCTTGCCTGGTTCTGCCCCTCTCCCTGACCTGGCTTCAGCATGAGCTCTCGCTCTTGGTCCACCC
TCACTCCCTGCTTCTGAGTTCCATGGTGAGTCTTCACCACATGCCCTGGCCCCTGTCCTCACGCCCGG-3'

[Top]

RS ID: 3842789 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
9 125140241

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000962 Link_out NP_000953 Link_out 2 R [Arg] / H [His]
missense NM_080591 Link_out NP_542158 Link_out 2 R [Arg] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGGGTGGTTTATGTTCACAGAGGTGGGAACAGGGGTCCCCTTGGGGGAACCCTGAAGCCCTGGCACCCAGTGATTCAGGACGGAGCT
GCGACTTAAGTCCATGCCTCTGGCCCCTCATTCCCCCATCAGGGGCTAGATGGGGGTCAGGAGGCCACCCTAGCATGGTCTCTGACCTCC
ATTTCTCACCCACAGTGAATCCCTGTTGTTACTATCCATGCCAGCACCAGGGCATCTGTGTCCGCTTCGGCCTTGACC A/G CTACCAG
TGTGACTGCACCCGCACGGGCTATTCCGGCCCCAACTGCACCATCCGTGAGCTGGGCCTTCAGCCCTCACTCCTTCCGTCTTGAGCCCTT
CTGCTCCCCGGGCCCTTTCTCCTAGACCCTAACTTCCTACCCTCCTCTCTGACCATGGCCCTGTTCTCCTTCCTTGCCTGGTTCTGCCCC
TCTCCCTGACCTGGCTTCAGCATGAGCTCTCGCTCTTGGTCCACCCTCACTCCCTGCTTCTGAGTTCC-3'

[Top]

RS ID: 3842788 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
9 125140206

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_080591 Link_out NP_542158 Link_out 3 Q [Gln] / Q [Gln]
coding-synonymous NM_000962 Link_out NP_000953 Link_out 3 Q [Gln] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTGGAGTTCCAGAGCAGGGCCTGGAAATGTCAGGATGGGTGGTTTATGTTCACAGAGGTGGGAACAGGGGTCCCCTTGGGGGAACCC
TGAAGCCCTGGCACCCAGTGATTCAGGACGGAGCTGCGACTTAAGTCCATGCCTCTGGCCCCTCATTCCCCCATCAGGGGCTAGATGGGG
GTCAGGAGGCCACCCTAGCATGGTCTCTGACCTCCATTTCTCACCCACAGTGAATCCCTGTTGTTACTATCCATGCCA A/G CACCAGG
GCATCTGTGTCCGCTTCGGCCTTGACCGCTACCAGTGTGACTGCACCCGCACGGGCTATTCCGGCCCCAACTGCACCATCCGTGAGCTGG
GCCTTCAGCCCTCACTCCTTCCGTCTTGAGCCCTTCTGCTCCCCGGGCCCTTTCTCCTAGACCCTAACTTCCTACCCTCCTCTCTGACCA
TGGCCCTGTTCTCCTTCCTTGCCTGGTTCTGCCCCTCTCCCTGACCTGGCTTCAGCATGAGCTCTCGC-3'

[Top]

RS ID: 3842787 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By hap map
  • By cluster

Details:

Chromosome Reference Position
9 125133507

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000962 Link_out NP_000953 Link_out 2 P [Pro] / L [Leu]
missense NM_080591 Link_out NP_542158 Link_out 2 P [Pro] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGGGGTGGAGCCGGGGGAAGGGTGGGGAGGGGATGGGCTGGAGCTCCGGGCAGTGTGCGAGGCGCACGCACAGGAGCCTGCACTCTG
CGTCCCGCACCCCAGCAGCCGCGCCATGAGCCGTGAGTGCGACCCCGGTGCCCGGTGGGGAATTTTCTTGGCCTCCTGGTGGAGCCTTGA
ATGCCAGGCTCAGCCCCTCATCTCTCTCCTCTGCAGGGAGTCTCTTGCTCCGGTTCTTGCTGTTCCTGCTCCTGCTCC C/T GCCGCTC
CCCGTCCTGCTCGCGGACCCAGGGGCGCCCACGCCAGGTAGGCGGCCCCATCCCTCCCCAAGGGAATCCCCGGTCTTGCGCCCCTGGCCT
GGTTTCAACCCCCTCCTTTCCCCTCCAGCGGGCCCAGCTTCCCCTTTCTGCTCGCGGTGCTGAGAAAGACTGAGGCTGAGTCTTTTGGTG
GGATGGGGGCTCCCTGAAGCCCCCCCGGCGGTGTGGCCTTGGCTAATGGGCTATCTAGTTCTTTCAGG-3'

[Top]

RS ID: 1236913 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By hap map
  • By cluster

Details:

Chromosome Reference Position
9 125133479

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_080591 Link_out NP_542158 Link_out 1 W [Trp] / R [Arg]
missense NM_000962 Link_out NP_000953 Link_out 1 W [Trp] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTCAGTTTCCTGTCTATATCTAGTGCCACCAGGCATCAGAAACGTAAGTGCTTCAAGGATCTTGGGTGAAAAGCCGCTTTAGCGGCG
AGCATACACTAATTAATAAAATGCCTTGGCCGGGGCTGGGCAGAGGAAGTAAGCGGGCAGCCGAGGTGACAGCTGGAGGGAGGAGCGGGG
GTGGAGCCGGGGGAAGGGTGGGGAGGGGATGGGCTGGAGCTCCGGGCAGTGTGCGAGGCGCACGCACAGGAGCCTGCACTCTGCGTCCCG
CACCCCAGCAGCCGCGCCATGAGCCGTGAGTGCGACCCCGGTGCCCGGTGGGGAATTTTCTTGGCCTCCTGGTGGAGCCTTGAATGCCAG
GCTCAGCCCCTCATCTCTCTCCTCTGCAGGGAGTCTCTTGCTC C/T GGTTCTTGCTGTTCCTGCTCCTGCTCCCGCCGCTCCCCGTCC
TGCTCGCGGACCCAGGGGCGCCCACGCCAGGTAGGCGGCCCCATCCCTCCCCAAGGGAATCCCCGGTCTTGCGCCCCTGGCCTGGTTTCA
ACCCCCTCCTTTCCCCTCCAGCGGGCCCAGCTTCCCCTTTCTGCTCGCGGTGCTGAGAAAGACTGAGGCTGAGTCTTTTGGTGGGATGGG
GGCTCCCTGAAGCCCCCCCGGCGGTGTGGCCTTGGCTAATGGGCTATCTAGTTCTTTCAGGGGAAACAGCAGACTGGGATCTGGTGCCAA
CTTGGGGAGAAGGGACAGTCCCTATCCATCCCCCTCACCTGTTCTGGGCCCCAGATGTCTAAGCAGCCTCTGCACCCAACAACCCCGC-3
'

[Top]

RS ID: 5794 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
9 125152621

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000962 Link_out NP_000953 Link_out 1 V [Val] / I [Ile]
missense NM_080591 Link_out NP_542158 Link_out 1 V [Val] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACAGAGTGAGACAGTGTCTAAAAAAAAACCCACAAAAAAAAAATGAGGAAGCTGAGACTCAGAGGGGCTTCCTGAGAGAGCATGACA
GCAGCAGGCCCGGGGCAGGTCTGCAGCATCACAACTGCTAGGCTGCCCAACACTCTCCATCCTAGCTCAGAAGGGACTCCCACTGGAAGC
TCTTGTCCCAGGAACTTACCCAGGCTCCAGGACAGCCTGGCCTGGCTCCCAGACCACTGCTGTGCTTCTCTCTCGGCAGATCGGTGGGGG
CAGGAACATGGACCACCACATCCTGCATGTGGCTGTGGATGTCATCAGGGAGTCTCGGGAGATGCGGCTGCAGCCCTTCAATGAGTACCG
CAAGAGGTTTGGCATGAAACCCTACACCTCCTTCCAGGAGCTC A/G TAGGTGAGCAGCTGTTTCCTGGATGCAGTCCCTGCCCTTGAG
GGACTGGCAGCAAAGTCAGGGAGACATCAAGGAAATAGAACGGGACAATACATGCGGCAATGTGTAACAACCAGACTTATAATGGGCGTG
GAAGTGCTGTGCCAGGGTGGTAAATAAGCCTGCTTGGGGAGAGAAGGTGACTTTTCAGCTGGGTTTGGAGAACAAATGGCATTTTCAGTG
GGAGAAGAGAGGGAGGAGTGTTTTAGGCAGAGCAATAGAAAGTACAAAGGCTGCCGGGCAAGGTGGCTCGCGCCTGTAATCCTAGCACTT
TGGGAGGCTCAGGCGGGTGGATCACGAGGTCAGGAAATCGAGACCATCCTGGCTAACACGATGAAACCCCGTCTCTACTAAAAATACA-3
'

[Top]

RS ID: 5793 Link_out

Alleles: A/G

Validation:

  • By hap map
  • By cluster

Details:

Chromosome Reference Position
9 125152579

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_080591 Link_out NP_542158 Link_out 1 K [Lys] / E [Glu]
missense NM_000962 Link_out NP_000953 Link_out 1 K [Lys] / E [Glu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AACTGCTAGGCTGCCCAACACTCTCCATCCTAGCTCAGAAGGGACTCCCACTGGAAGCTCTTGTCCCAGGAACTTACCCAGGCTCCA
GGACAGCCTGGCCTGGCTCCCAGACCACTGCTGTGCTTCTCTCTCGGCAGATCGGTGGGGGCAGGAACATGGACCACCACRTCCTGCATG
TGGCTGTGGATGTCATCAGGGAGTCTCGGGAGATGCGGCTGCAGCCCTTCAATGAGTACCGC A/G AGAGGTTTGGCATGAAACCCTAC
ACCTCCTTCCAGGAGCTCRTAGGTGAGCAGCTGTTTCCTGGATGCAGTCCCTGCCCTTGAGGGACTGGCAGCAAAGTCAGGGAGACATCA
AGGAAATAGAACGGGACAATACATGCGGCAATGTGTAACAACCAGACTTATAATGGGCGTGGAAGTGCTGTGCCAGGGTGGTAAATAAGC
CTGCTTGGGGAGAGAAGGTGACTTTTCAGCTGGGTTTGGAGAACAAATG-3'

[Top]

RS ID: 5792 Link_out

Alleles: A/G

Validation:

  • By hap map
  • By cluster

Details:

Chromosome Reference Position
9 125152507

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000962 Link_out NP_000953 Link_out 1 I [Ile] / V [Val]
missense NM_080591 Link_out NP_542158 Link_out 1 I [Ile] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAGAGCATGACAGCAGCAGGCCCGGGGCAGGTCTGCAGCATCACAACTGCTAGGCTGCCCAACACTCTCCATCCTAGCTCAGAAGGG
ACTCCCACTGGAAGCTCTTGTCCCAGGAACTTACCCAGGCTCCAGGACAGCCTGGCCTGGCTCCCAGACCACTGCTGTGCTTCTCTCTCG
GCAGATCGGTGGGGGCAGGAACATGGACCACCAC A/G TCCTGCATGTGGCTGTGGATGTCATCAGGGAGTCTCGGGAGATGCGGCTGC
AGCCCTTCAATGAGTACCGCRAGAGGTTTGGCATGAAACCCTACACCTCCTTCCAGGAGCTCRTAGGTGAGCAGCTGTTTCCTGGATGCA
GTCCCTGCCCTTGAGGGACTGGCAGCAAAGTCAGGGAGACATCAAGGAAATAGAACGGGACAATACATGCGGCAATGTGTAACAACCAGA
CTTATAATGGGCGTGGAAGTGCTGTGC-3'

[Top]

RS ID: 5791 Link_out

Alleles: A/G

Validation:

  • By hap map
  • By cluster

Details:

Chromosome Reference Position
9 125148791

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_080591 Link_out NP_542158 Link_out 2 K [Lys] / R [Arg]
missense NM_000962 Link_out NP_000953 Link_out 2 K [Lys] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-aggattgcttgagcccgggaaagttcaggctgaagtgagctgtaattataccattgcgctccagcttgggtgacagaccaagacctt
gtctgtaaaaataaaaataaaCATCAACAGCAACAACAACAATAAAGAGACCAAAAGCAAGCACCTCTCATGAACTGGCCTGCTTTCCAA
GCTGGGCATCTAAATCACTGTGCTTGGCTGACCCTATTTCCAATCCTGCCCTGCCCAGGGGAGACCATCAAGATTGTCATCGAGGAGTAC
GTGCAGCAGCTGAGTGGCTATTTCCTGCAGCTGA A/G ATTTGACCCAGAGCTGCTGTTCGGTGTCCAGTTCCAATACCGCAACCGCAT
TGCCATGGAGTTCAACCATCTCTACCACTGGCACCCCCTCATGCCTGACTCCTTCAAGGTGGGCTCCCAGGAGTACAGCTACGAGCAGTT
CTTGTTCAACACCTCCATGTTGGTGGACTATGGGGTTGAGGCCCTGGTGGATGCCTTCTCTCGCCAGATTGCTGGCCGGGTAAGCCCCAG
AGGAGTGCTGGTGAGGGCAGGTGGGCTGAGGGATCCAGCAGACCTGGGTCCAAATTCCAGGTTCTTCTTC-3'

[Top]

RS ID: 5790 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
9 125145976

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000962 Link_out NP_000953 Link_out 3 A [Ala] / A [Ala]
coding-synonymous NM_080591 Link_out NP_542158 Link_out 3 A [Ala] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AACAGCCTTGGCTGAGGGGAACTGGCAGCTGGAGGCAGGAGTGGGAGGGAGTTGGTTGTGGGCAGCTGTGGGTGACCCCCAACCCCA
GGTTGCCAGGTGGCCCCATCCCACAGGTGCTGGATGGAGAAATGTACCCGCCCTCGGTAGAAGAGGCGCCTGTGTTGATGCACTACCCCC
GAGGCATCCCGCCCCAGAGCCAGATGGCTGTGGGCCAGGAGGTGTTTGGGCTGCTTCCTGGGCTCATGCTGTATGCCACGCTCTGGCTAC
GTGAGCACAACCGTGTGTGTGACCTGCTGAAGGC C/T GAGCACCCCACCTGGGGCGATGAGCAGCTTTTCCAGACGACCCGCCTCATC
CTCATAGGTGAGGACTCCAGACCTGCCCTGCCCTGGAAGGTCATTCCCTCCATCCTGAGAAGTTGGGGGCGGGGGGGTACTTAGAGGTGG
AGGCTGGGATTAGAATCCTCACCCTTCTGCTTAGTGGCTAGAAGACCTTGAGCAGGCCCCTCAACCTCTGTGAGCCTCGGTCTCCAAATC
TGTACGTTGGGGTGAACGATGATTGTAAGGATTTATTGAGATCATGAATGGGAAGGCAACTAGCACATAG-3'

[Top]

RS ID: 5789 Link_out

Alleles: A/C

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
9 125143973

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_080591 Link_out NP_542158 Link_out 1 L [Leu] / M [Met]
missense NM_000962 Link_out NP_000953 Link_out 1 L [Leu] / M [Met]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCTGGTGAGCCCAGATGTCCCCAGGGCAGCAAGATCCAGATAGGAGAAGCTACTGCTGTTTCCTACCCCCCAACCAGGGAAGAAGCA
GTTGCCAGATGCCCAGCTCCTGGCCCGCCGCTTCCTGCTCAGGAGGAAGTTCATACCTGACCCCCAAGGCACCAACCTCATGTTTGCCTT
CTTTGCACAACACTTCACCCACCAGTTCTTCAAAACTTCTGGCAAGATGGGTCCTGGCTTCACCAAGGCCTTGGGCCATGGGGTGAGTAC
CTAGGAGGGGCTCAGGACTGCTCTGGACCTAATTTGGCACGCGTATGTCATCGACAGTGGGCCGGCACCCTGGTGACCTGAGGGAACCCC
TCTCTGTCCACAGGTAGACCTCGGCCACATTTATGGAGACAAT A/C TGGAGCGTCAGTATCAACTGCGGCTCTTTAAGGATGGGAAAC
TCAAGTACCAGGTAGTGCTGGGCCAGGGGGTAGGGCAGAGGGAGGGGTCTCCCATGGTCTTCCCTGGCAAAGACTGCTTGGGGCGGGGGT
CTGGGTCATGTCCTGAGAGGGCCAACCACGGGAGTGGGAAGCTTGTGCCAGGAGCGACAGTATACGCTGGGAGGAGGCAGCAGGTATGAG
AAGCCAGGGAGGAGCAGACGTGGCCTCCCATGTCAGCCAGGGAGGTGGATTTTGGAGCTCAACAGGAGATGAACATTTGTAGTCTGCATT
TATTTATTTAATTATTCCACAATATTAATTGGACACGAGAATATACCTGGCACAGGTGATTGAGTAGTGACCATTATAGTTAATGGGC-3
'

[Top]

RS ID: 5788 Link_out

Alleles: A/C

Validation:

  • By frequency
  • By hap map
  • By cluster

Details:

Chromosome Reference Position
9 125143792

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000962 Link_out NP_000953 Link_out 3 G [Gly] / G [Gly]
coding-synonymous NM_080591 Link_out NP_542158 Link_out 3 G [Gly] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCATATTTTTATAAAGTATTTTAAATCAAATTCTAAAAATCATGCCACTTAAAATTCTAAAAATCATGCCACTTCACCCATAAATAC
TTCTAGGGTCTTTTGGTAGAGAGTGGGTTACTTGGTGGTGGTGGGGAGGTGGTCCTGAGGAGGCCACTCTGGGCTTCCTGCTTGGGCCAG
TTTGCCTGGTGAGCCCAGATGTCCCCAGGGCAGCAAGATCCAGATAGGAGAAGCTACTGCTGTTTCCTACCCCCCAACCAGGGAAGAAGC
AGTTGCCAGATGCCCAGCTCCTGGCCCGCCGCTTCCTGCTCAGGAGGAAGTTCATACCTGACCCCCAAGGCACCAACCTCATGTTTGCCT
TCTTTGCACAACACTTCACCCACCAGTTCTTCAAAACTTCTGG A/C AAGATGGGTCCTGGCTTCACCAAGGCCTTGGGCCATGGGGTG
AGTACCTAGGAGGGGCTCAGGACTGCTCTGGACCTAATTTGGCACGCGTATGTCATCGACAGTGGGCCGGCACCCTGGTGACCTGAGGGA
ACCCCTCTCTGTCCACAGGTAGACCTCGGCCACATTTATGGAGACAATCTGGAGCGTCAGTATCAACTGCGGCTCTTTAAGGATGGGAAA
CTCAAGTACCAGGTAGTGCTGGGCCAGGGGGTAGGGCAGAGGGAGGGGTCTCCCATGGTCTTCCCTGGCAAAGACTGCTTGGGGCGGGGG
TCTGGGTCATGTCCTGAGAGGGCCAACCACGGGAGTGGGAAGCTTGTGCCAGGAGCGACAGTATACGCTGGGAGGAGGCAGCAGGTAT-3
'

[Top]

RS ID: 5787 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
9 125140823

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_080591 Link_out NP_542158 Link_out 2 R [Arg] / Q [Gln]
missense NM_000962 Link_out NP_000953 Link_out 2 R [Arg] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCCACTTCCTGCTCACTCACGGGCGCTGGTTCTGGGAGTTTGTCAATGCCACCTTCATCC A/G AGAGATGCTCATGCGCCTGGTA
CTCACAGTGCGCTCCAACCTTATCCCCAGTCCCCCCAC-3'