SNPJam Report for PCSK2

Showing coding SNPs for PCSK2 (Gene ID: 5126)

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: 114984146 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
20 17410083

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_002594 Link_out NP_002585 Link_out 3 H [His] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGGTAGATAATGGTTTGCTCAGCACTTTAAGTCTTCACAGAACTTTAACACAAGGGCTGACCTCTTCAGTGACACAGGGTTTACTTG
TATATGATACGCAGATTTCATTTTTGTTCCAAAGAGAATTTTGAGCCCATGAGAGATCTAGCCAAATTCGTTTCACTGCATATCTAATGT
GTCTTTATATTTTTCCAAAGCCA C/T GGGACCCGATGTGCAGGAGAAGTTTCTGCTGCCGCCAACAACAATATCTGTGGAGTTGGAGT
AGCATACAACTCCAAGGTTGCAGGTAAGCCATCCCTGCCAAACAGAGGCCCCCACTAGGTATCACACTGATCTCAAGGCTGACTGTGGCC
CAGCAAAAAATCCCACTGGTGCAGAAAAGCTAGGATCCACAGATTTGG-3'

[Top]

RS ID: 111444999 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
20 17434561

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_002594 Link_out NP_002585 Link_out 1 T [Thr] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGCAGCGTCTCCCCTGCTCTCCCCAGGGCCGCGGCGGCAAAGGCAGCATCTACGTGTGGGCCTCCGGGGACGGCGGCAGCTATGACG
ACTGCAACTGCGACGGCTACGCCTCCAGCATGTGGACCATCTCCATCAACTCAGCCATCAACGACGGCAGGACTGCCCTGTACGACGAGA
GCTGCTCTTCCACCTTGGCTTCC A/G CCTTCAGCAACGGGAGGAAAAGGAACCCCGAGGCCGGTGTGGTGAGCACGTCCCCTTCTGTC
CTTGTTTCCTTAGGGCCACTGCACCTCTGTGTCAGGGTGGGATGCTGGGACACTGGCTTGCTCCCCTCCTGTCCCCTCCCTCAGAGCCTG
AACTAAGGCTCTGAAGGGAAGACCCCTTTTCTCTATGCCCAGTCCTGC-3'

[Top]

RS ID: 41276384 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
20 17434572

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_002594 Link_out NP_002585 Link_out 3 N [Asn] / N [Asn]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AATTCAGTTGACTTTTTTAGATTGAATTCTTCCTGGAAAAAAAAAGTTTCCCACAATGCCCTGCCAGAAGGATATGGTGTCCAACCC
AGTTTAAAAAGTGCACCCAGTCTTTAGGTTCAACTGCTGAAGAAGCCCAACCCCTGGGCTGGAGACCTCCCCTGCCCCCTCGCAGCCCAG
GCTGTGGGTAGCGGCAGCGTCTCCCCTGCTCTCCCCAGGGCCGCGGCGGCAAAGGCAGCATCTACGTGTGGGCCTCCGGGGACGGCGGCA
GCTATGACGACTGCAACTGCGACGGCTACGCCTCCAGCATGTGGACCATCTCCATCAACTCAGCCATCAACGACGGCAGGACTGCCCTGT
ACGACGAGAGCTGCTCTTCCACCTTGGCTTCCACCTTCAGCAA C/T GGGAGGAAAAGGAACCCCGAGGCCGGTGTGGTGAGCACGTCC
CCTTCTGTCCTTGTTTCCTTAGGGCCACTGCACCTCTGTGTCAGGGTGGGATGCTGGGACACTGGCTTGCTCCCCTCCTGTCCCCTCCCT
CAGAGCCTGAACTAAGGCTCTGAAGGGAAGACCCCTTTTCTCTATGCCCAGTCCTGCTTTCTAACAAAGCACAGACCTCCCATCTGCGAG
CTAGTAGCATGATCGGTGAGGACTCCTTTCTGGATCGTTTTCCATAGATTTTCTTGTTTATTGTTTCTGGCTTACAAGTAATGATGAAGT
CTGGTTTACCAATCAGTTGCCCCATTCCATCACTTACAAGAATAACTAACTCATTGTAAGAACCAAGGCATCACACTGTAACCCTGTC-3
'

[Top]

RS ID: 41276380 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
20 17410116

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_002594 Link_out NP_002585 Link_out 3 A [Ala] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCTGGTAGTTCCAGATGATTTGTACCATTGGAATCTTTTGCATCTTGAATGCTGTTTGGGTCTGAAAACACAGCCTTCTCAGTGATT
CAGCTTATACTTGTTTTATTTCTCTATTGCGGCTTTACAAACCACCCCAAAATGGGGCGCTTTACAGAAAACTAAAAGACAGGTAGATAA
TGGTTTGCTCAGCACTTTAAGTCTTCACAGAACTTTAACACAAGGGCTGACCTCTTCAGTGACACAGGGTTTACTTGTATATGATACGCA
GATTTCATTTTTGTTCCAAAGAGAATTTTGAGCCCATGAGAGATCTAGCCAAATTCGTTTCACTGCATATCTAATGTGTCTTTATATTTT
TCCAAAGCCACGGGACCCGATGTGCAGGAGAAGTTTCTGCTGC C/T GCCAACAACAATATCTGTGGAGTTGGAGTAGCATACAACTCC
AAGGTTGCAGGTAAGCCATCCCTGCCAAACAGAGGCCCCCACTAGGTATCACACTGATCTCAAGGCTGACTGTGGCCCAGCAAAAAATCC
CACTGGTGCAGAAAAGCTAGGATCCACAGATTTGGCACAAGTGAAAAAAATTTTTTTCTTTTAACCTGCATAACAATATCAATAGTTTTA
AATTTTTAATTTAAGCATAATATAAATTCAAAAAAGTTAACAAATCATAAATAAGCTAATGACTTTTCCCAAACTGGCCATACCCATACA
GTGATCAGGAAACAAAATGTAACCAGCACCCCAAACATGTCCCCTTCCAGTTACTACTCTGACACCCAAGAATAATCATGATCTTGTT-3
'

[Top]

RS ID: 17857236 Link_out

Alleles: A/G

Validation:

  • By hap map

Details:

Chromosome Reference Position
20 17462248

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_002594 Link_out NP_002585 Link_out 1 K [Lys] / E [Glu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CGCCACCTGAAGCTGCCCTCAAAATCCCTTGTAAGGTGCACCCACCACTGCTTATCCTATCTCCTCTTCACTCTGCCCTCAGGAAAA
TACCATCCACTGGC A/G AGTTGGTGCTGACACTCACAACCGACGCCTGTGAGGGGAAGGAAAATTTTGTCCGCTACCTGGAGCATGTC
CAGGCTGTCATCACGGTCAACGCAACCA-3'

[Top]

RS ID: 17854041 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
20 17437052

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_002594 Link_out NP_002585 Link_out 3 A [Ala] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGCGTGATTTATCCACTCATTACTCATTATCTTCCCTTCCAGGCAACCACAGATTTGTACGGCAACTGCACTCTGAGGCATTCTGGG
ACATCTGCAGCTGC C/G CCCGAGGCAGCTGGTGTGTTTGCACTGGCTCTGGAGGCTAAGTATGTTCATAGCTCTGGGTCCAGGGCCAG
CTCTGCAGGGTGGACTAACACGTGTCTC-3'

[Top]

RS ID: 17854040 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
20 17417374

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_002594 Link_out NP_002585 Link_out 2 P [Pro] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCCCAAGCCCTCCTCCACCTCCTTGTCTCCTGCGAACTGGGGAACCCAAACATGGTGTCCTCTGCTCAACGTGTCCACAGGCATCCG
GATGCTGGACCAGC A/C ATTCATGACAGACATCATCGAGGCCTCCTCCATCAGTCATATGCCACAGCTGATTGACATCTACAGCGCCA
GCTGGGGCCCCACAGACAACGGCAAGAC-3'

[Top]

RS ID: 16999198 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
20 17434581

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_002594 Link_out NP_002585 Link_out 3 K [Lys] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGACCATCTCCATCAACTCAGCCATCAACGACGGCAGGACTGCCCTGTACGACGAGAGCTGCTCTTCCACCTTGGCTTCCACCTTCA
GCAACGGGAGGAA A/G AGGAACCCCGAGGCCGGTGTGGTGAGCACGTCCCCTTCTGTCCTTGTTTCCTTAGGGCCACTGCACCTCTGT
GTCAGGGTGGGATGCTGGGACACTGGCT-3'

[Top]

RS ID: 11907317 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By hap map
  • By cluster

Details:

Chromosome Reference Position
20 17462475

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_002594 Link_out NP_002585 Link_out 3 T [Thr] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTGTAAGGTGCACCCACCACTGCTTATCCTATCTCCTCTTCACTCTGCCCTCAGGAAAATACCATCCACTGGCAAGTTGGTGCTGAC
ACTCACAACCGACGCCTGTGAGGGGAAGGAAAATTTTGTCCGCTACCTGGAGCATGTCCAGGCTGTCATCACGGTCAACGCAACCAGAAG
AGGAGACCTGAACATCAACATGACTTCCCCTATGGGCACCAAGTCCATTTTGCTGAGCCGGCGTCCAAGGGATGACGACTCCAAGGTGGG
CTTTGACAAGTGGCCTTTCATGACCACTCACAC A/G TGGGGGGAAGACGCCCGAGGCACCTGGACCCTGGAGCTGGGATTTGTCGGCA
GCGCCCCGCAGAAGGGGGTGCTGAAGGAGTGGACCCTGATGCTGCATGGCACTCAGAGTGCCCCGTACATCGACCAGGTGGTGCGGGATT
ACCAGTCCAAGTTGGCCATGTCCAAGAAAGAGGAGCTGGAGGAAGAGCTGGACGAAGCCGTGGAGAGAAGCCTGAAAAGCATCCTTAACA
AGAACTAGCGCTGCACATCCGCCTTTCCCACCGCCCTCCCTCCCCAGCTCCGCCTCTGTCCTCGCTCC-3'

[Top]

RS ID: 10698820 Link_out

Alleles: -/GAG

Validation:

Not Completed

Details:

Chromosome Reference Position
20 17462392

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_002594 Link_out NP_002585 Link_out 1 K [Lys] / EK

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ctccagcccgggcaacagagtgggaccctgtctcaaaagacaaaaaaaaaaaaaAAAAAAAAAAaaagagataagtaacttactcag
gctcacacagccagtgtgggaactaaacccaggtctgattgatcaaccccaaagcccttgccctttccgcCACCTGAAGCTGCCCTCAAA
ATCCCTTGTAAGGTGCACCCACCACTGCTTATCCTATCTCCTCTTCACTCTGCCCTCAGGAAAATACCATCCACTGGCAAGTTGGTGCTG
ACACTCACAACCGACGCCTGTGAGGGGAAGGAAAATTTTGTCCGCTACCTGGAGCATGTCCAGGCTGTCATCACGGTCAACGCAACCAGA
AGAGGAGACCTGAACATCAACATGACTTCCCCTATGGGCACCA -/GAG AGTCCATTTTGCTGAGCCGGCGTCCAAGGGATGACGACTC
CAAGGTGGGCTTTGACAAGTGGCCTTTCATGACCACTCACACGTGGGGGGAAGACGCCCGAGGCACCTGGACCCTGGAGCTGGGATTTGT
CGGCAGCGCCCCGCAGAAGGGGGTGCTGAAGGAGTGGACCCTGATGCTGCATGGCACTCAGAGTGCCCCGTACATCGACCAGGTGGTGCG
GGATTACCAGTCCAAGTTGGCCATGTCCAAGAAAGAGGAGCTGGAGGAAGAGCTGGACGAAGCCGTGGAGAGAAGCCTGAAAAGCATCCT
TAACAAGAACTAGCGCTGCACATCCGCCTTTCCCACCGCCCTCCCTCCCCAGCTCCGCCTCTGTCCTCGCTCCACGTTTCAGGCAGGCAC
-3'

[Top]

RS ID: 6044812 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
20 17417513

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_002594 Link_out NP_002585 Link_out 3 A [Ala] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTGCTAGGGGAATAAAATTGTCTTTAAATCATTACATCAGCAAAGATGTGGGTGGGATGCAGAAAGGAGCCAGTAGGACCGTCTGTG
CCTCTTTCTTGATCCCTGGACTGCACAGTGGCCCCAGAGCACCTGAGATCTCCAACCATTCCAAGTACCCAGGGCCCAAGCCCTCCTCCA
CCTCCTTGTCTCCTGCGAACTGGGGAACCCAAACATGGTGTCCTCTGCTCAACGTGTCCACAGGCATCCGGATGCTGGACCAGCCATTCA
TGACAGACATCATCGAGGCCTCCTCCATCAGTCATATGCCACAGCTGATTGACATCTACAGCGCCAGCTGGGGCCCCACAGACAACGGCA
AGACAGTGGATGGGCCCCGGGAGCTCACGCTGCAGGCCATGGC C/T GATGGCGTGAACAAGGTAAGGGGGCCGGCCCCCTAGGCCCCG
GCCACTCACAAGTTGGGACAAAGTGGGTGGAGGGGTAGATGCAACTGGGTGAACCACTGTCACCCTGTGTGTGAGTCCAGGTCCTGCAGG
AATCAGACAGCACAGGGGCTTAGCCATGCAGGAGGCTGACTGCAGGGAGGCCTGTGATGGATAAGGAGAGAGGGCAGAAAAGCCTCAGAC
GCGATGCCTACCTGGCTCCTGCAAACGACAGTGGGAAGGAAGGGGCCGGGGGGGGGAGGGTCTCAGACAGCAGTCCCCACGCCAAAGCTG
CCCATCACAGACAGAAAGGGGCCTGCACTGGCACCCCCACCACCCACTCAGTCGTTGGCTGGCAGTAGCACACAGGATTTTGGGTCTC-3
'