SNPJam Report for A2M

Showing coding SNPs for A2M (Gene ID: 2)

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: 79748783 Link_out

Alleles: G/T

Validation:

  • By frequency

Details:

Chromosome Reference Position
12 9225337

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000014 Link_out NP_000005 Link_out 2 N [Asn] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CACGTCCCTAACCCTTTCTCTGATCTGTCCCATTGTTTTCTGAGTTAGGACTTCTCAGAGAGAACAGCTGCTGTCCTCATCTGTCCT
GTCCTCACCTGCCCAAGAGTCTCACCTGGAGGTAGACACATCCTTCTCCTGTCACTTTCATGCTGTATTCCCCAGGCAGCTCTGGCAATG
AGACCTGCTGCAGTAACAGGCGG G/T TGTTGTTGTCCACTTGGAATTTGCTGGAAAATGTCCCTGAAGACTGGATAGTCACCTGTGCA
GCCTTCCCAGTCCTGGTAAATGTGGCTGCTCCATATTTGGACAGAGCATGGAGAGCCACCACTGTGTCCTGTTAGAGACAGATGAGTGAG
AGAACCCATTGGGCATTATAAGGCTTTGAGGGCTGAGATATTTTTCAA-3'

[Top]

RS ID: 79463492 Link_out

Alleles: A/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
12 9259200

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000014 Link_out NP_000005 Link_out 2 L [Leu] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCACCTCCCCCCAACTTACAATTCATTATTTGGCTAAGAAAATCAATGCCTGTTGTGTTTTCTCTTATACCCATGTAGTACACAAAC
CTGTTCCTTCTTCTTGGATCTGGGCCTCAGTGTGAAGTTTCATTTCATACTCCTTCCTCTTCAGCTGGAAGACCTTGGTTTTTACTTGCT
GATAGAAGCAGCCATGGCTGTTT A/T GCTAAGAAGGGAGAAAATAAAATACAAAAATATAATGCATATTATACTAAATAGATCAGTGG
TCAGATAACCGGTGTGATTTTTGTGGGGGGACAACATCATGTAGGCATTTTCTATGACGAGGACACAATAAATATTCTCTAGCAACTAAA
TATTAAATTTCACAACAATATCTCATGTATAATTGACAGATGTATTCC-3'

[Top]

RS ID: 74671747 Link_out

Alleles: A/G

Validation:

  • By frequency

Details:

Chromosome Reference Position
12 9254241

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000014 Link_out NP_000005 Link_out 3 Y [Tyr] / Y [Tyr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACCAGATAATAGAAGGAGAGCTTCTTCAGCCCCAGCAGGGTGCCTCCATTCAGAATATAATGTGCCTGGACTGTCTGAGTATGGCCA
CAGGGTAGTTCATGAGACATGGGCTCAAGGTGGACAAAGCTCTTGCTTGGGGAGAACACAAGATAAGCAGTGTGATGTGCCTCTTCGTGT
TCTTCTGACACCCACTGGTAGCC A/G TAACAGGGACTACGATCCTTGTAATTGACCTAATGAATTAGAAAAATTATATTATTTTTAGA
TTATACGTCATAAAGATTAATGTTCTCACAAAACTACGTAAGTTTACTGTCCTACCTTAACTAGTAGCTAGAAATCTTTTGTTCCACAAT
GAAAAGTGGGAGAAGGACCCCTGATTTTGTTTCTCTGCTTCAAATGTA-3'

[Top]

RS ID: 71741396 Link_out

Alleles: (LARGEDELETION)/-

Validation:

Not Completed

Details:

Chromosome Reference Position
12 9247680

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000014 Link_out NP_000005 Link_out 1 Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGCTTTTTTACCTGACTGATGGAGAATGTAGTGTTGTTGTGTGAACATTTCTATTTCTGTTTACACTAATCCTACGCTTGGAAACTT
TCTCTTTCCTTTCAGCCTAACACATGTACCTCCATTTACTAGAATTTGAGTTTATATTACTATATGACCTTGAGCAATAACCTTAATATG
TATGACTCACATGTCCTTTTTGTTTGTTAATTTTTGTCACATTGTATCTTTTAAAAAATTTAAAATTTGGTGAATATATTAGGCAATATA
TATTTATTAATTTTTTGTTTACCATAAAAACCTACACGTAGACCTTCAGGTCCATGCATTTCATACTGTTGAAGCTGTGGACACATTTTG
GGTTTACGAATCTTTGAGTTGGTGAATGCCTTTAAGCCCATGT (LARGEDELETION)/- CCTCTAGGAAGCTGTACATATCCTTTTC
ATTTGTACTTGATACTGGAGTATATGTGATTCCATTAATATAGACATTATGACGATTGATGCAGTCTTCATTGTCCTGGTCATTCAAAGG
CCCAGGGAAGCCAGTGAGGTCCTTTTCTGGTAGCAGGTTGTAAACCTGTACAAATACGAAAGACAAAAAGGCAAACTTATTTGTGACTTT
TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACCGCGGACTGCAGTGGCGCAATCTCGGCTCAC
TGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTA
ATTTTTTGTAT-3'

[Top]

RS ID: 71660347 Link_out

Alleles: (LARGEDELETION)/-

Validation:

Not Completed

Details:

Chromosome Reference Position
12 9242622

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000014 Link_out NP_000005 Link_out 3 Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGCTACTCAGGAGGCTGAGGCACGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCAGAGATCCTGCCACTGCACTCCAG
CCTGGATGACAGAGCAAGACTCTGCCTCAAAAACAAAAACAAAAACCCCCAACAAAACAGAAAGTAAATCAAGAGAGAGATAGGACAGAG
AGATACATGAGAATAATATTATAAAATATCCATATATTATTATATTACCCACATATATTATATATTATTGTGGACTATATATTATTTAGG
TTTACTTACTTCAACCAACAGAGGCTTGATGACTGTGTCTTTCCTTCCGTGTTCAGGAACTGAAGGCACCTCAGTCCCACACAGCTCTTG
AGACTCTAGTGCCTCTGCGCTCACAGTGAAATTCACATTTCCT (LARGEDELETION)/- AATGACTTTGGGGTTACTGCCCAGGACA
CAGTTTGCCGCCCGTTTGCACAGATGCAGTGAGGCGCTTGTTCCTTCTCCACTGGGACAGCTAGGAAGGCGGGAGAGGCTTCCAGCTGCA
CACTGACCTGAAACCACACATAAGAAAGGGAGTAGAGAGGGAAGGAGAACAGAGGGAGAATGGGTTTGAAGTAAAGCATCTTGAGGAATT
GGTTAGATTTCAGGTTGCCTCACATTAAAGATGATATAAATGAAGATCAAGTACCTGAAATATATTTAAGTGGATCTTAATGTATCAGAT
TTACACAGGTAAATCTGAGTTATTTTGGAAGCAACCTGCTCTTTCACATGATGGGACCAGAGGAAGGGAAAGGTAATGATGGCATGCTGC
TCTACCTCTTT-3'

[Top]

RS ID: 61730090 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 9227196

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000014 Link_out NP_000005 Link_out 2 T [Thr] / M [Met]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTTGAGGAAGGCAGTGTTGTTATGGGAAATAGGAGATGGATAATAACACAGCGATGGGGTGCCGGGATTCTGAGCATTTCCTTTTGG
CCCTCTTTGACTTTGATTTGCTTTTATTTCCATTATCCTTGGATACTGAAAACTTTTCCTCATTTCAAGTTACTGTCATCTGTATTTTTT
TCTTCTTGGATGTGTTTGTTTCTTTTTCATTCAAATCTTTTGCTACCTGAAGGTGAAATAAAAGGTTTTGGCAAATCACCAACCTGGGTG
GAGGAGAAACCGCCCTGGGCATTCTGCTGCTTC A/G TGATCCACTTCACGATGTTGGTTGCAGAGGTCAGGTCCTCCGAGGTTGGGGC
TGGCTGGGCCGTGAGATAAGCGAGGAGCACATAGGATGTCATCTCCACCTCAGCAGAGGGAGCCTGGGGTTCGTAAAAATGCCCCACTGG
TGCCTTGGGTTTCTGAGGGCGCTCCCAATGGACAGAGTTGTCTTAAAGATGAGAAAAAGATATTTATAAGTGCCTACATATTTATATTTA
ATTCAAGGTGAAAGTACCCAAGCCAGTGCTGAAATGAGAATTGCATGCCCATTATAATCCCCTGTACT-3'

[Top]

RS ID: 61730087 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 9229399

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000014 Link_out NP_000005 Link_out 2 K [Lys] / M [Met]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CACCTTTCTTCACAGCTTCCTCATTAAGTGACTTGAGTACTTCCTTCCTC A/G TGTCCTGGTTACCTGCCAGGGCAAAAGCATAG
GCCAGCAGTGCTTTGGTA-3'

[Top]

RS ID: 61730082 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 9243052

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000014 Link_out NP_000005 Link_out 3 P [Pro] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAGATGCAGTGAGGCGCTTGTTCCTTCTCCACTGGGACAGCTAGGAAGGC C/T GGAGAGGCTTCCAGCTGCACACTGACCTGAAA
CCACACATAAGAAAGGGA-3'

[Top]

RS ID: 61730080 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 9254254

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000014 Link_out NP_000005 Link_out 2 R [Arg] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTGCCTCTTCGTGTTCTTCTGACACCCACTGGTAGCCGTAACAGGGACTA A/G GATCCTTGTAATTGACCTAATGAATTAGAAAA
ATTATATTATTTTTAGAT-3'

[Top]

RS ID: 61730079 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 9254153

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
nonsense NM_000014 Link_out NP_000005 Link_out 1 E [Glu] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGCCTGGACTGTCTGAGTATGGCCACAGGGTAGTTCATGAGACATGGGCT A/G AAGGTGGACAAAGCTCTTGCTTGGGGAGAACA
CAAGATAAGCAGTGTGAT-3'

[Top]

RS ID: 56280325 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 9229517

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000014 Link_out NP_000005 Link_out 1 N [Asn] / D [Asp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCTTGTCCTGGTTACCTGCCAGGGCAAAAGCATAGGCCAGCAGTGCTTTGGTATATACATGGCTGCCATGGTCCCCTTCTTGTGCTG
TCTTCCAGGCTGACTCCAGGCAAAACAGGGCAT C/T GCGGACAACAGGGTGCTGTGAAGGCAGAACAAGAAGGGAACTAAGCTATGTA
AACAGGCATATTAGCATTCCCAGGCAAATACACGGATCACAGCACAGAAGTTTTTCAAACGCATTTTT-3'

[Top]

RS ID: 56219171 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 9241846

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000014 Link_out NP_000005 Link_out 2 P [Pro] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TATATAAATGTTCTTTGAACTTTAAATGTTAGACTTTAATGTTTTTTAAATTATGATGGTTGACTCTTACCTGATGGACAAAGTAGG
GAGTTGAATGTTGTTTCCTTCTCTAGTCCTTCA C/G GCTTTAGGTAAAAGAAAGAAAAGCTAGTGAGAATGGACTGACCTTCAGAACA
TGTGTTTTAATGGAGGGACCACAGATATTTGGATAGTGAAGAGAAGGATTTGAACTGTATTATCTAAG-3'

[Top]

RS ID: 56202499 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 9265016

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000014 Link_out NP_000005 Link_out 3 V [Val] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAACTTTGCCTGGGGAACATCCAGGGGAAGAAGATCTTTCCTTTTTGAAGTTGTCCTGTCTGTAGGCTTCTTCATACCTGTCTGCCC
TGGTTTGTAGATTGATTTGTCTGTCTGGACAAA C/G ACCAGACTGTCCTCGTTCTTAACCATCACTGTGGTCCGCTTCTTAAATTCTT
GGGTTGGTCCTTTCACTTGGACAGTGAGGAACATTACCTCCTCATTGGATGAAGACTTTGGGACCTGA-3'

[Top]

RS ID: 55761427 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 9243017

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000014 Link_out NP_000005 Link_out 2 A [Ala] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CACTGCCATATACAATCTTTGAGTAGAGAATTATCTCTAGCAGTTTTTTGCTCACCTAATGACTTTGGGGTTACTGCCCAGGACACA
GTTTGCCGCCCGTTTGCACAGATGCAGTGAGGC A/G CTTGTTCCTTCTCCACTGGGACAGCTAGGAAGGCGGGAGAGGCTTCCAGCTG
CACACTGACCTGAAACCACACATAAGAAAGGGAGTAGAGAGGGAAGGAGAACAGAGGGAGAATGGGTT-3'

[Top]

RS ID: 34286412 Link_out

Alleles: -/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 9232387

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000014 Link_out NP_000005 Link_out 1 H [His] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTGGATAGTTTCCTTGAAATTAACTATCATAGCAGCTATCATAGTGAGCTAAGCTAATGTATCATAATATTCATAAGTAACTGAAAC
CTACTGGGAAATCCAGTTGAAATAACATTCAAGTTTTCCCTTACTCAAGTAATCACTCACCAGTGTTGAGATAGCCAATGGCCTTGGACT
TGATCTCTGGAGTAAGCTGCTGTGTTTCATTTAGATAATCCAGTACATAGATGTTAGGAGCAAAGAGGACCATATTCTGCTCTCCACAGC
CATAGGGCATCTGGAGAAGATTTTGTGTGTTTT -/T GCATGGCAGAGCCTAATATGTCTCCTAGAGAATGGGAGAGATGGGAAGTCAT
AAAGCTTGGAGATTATCATCTATCAAAGTCATTAAGCAGAAATAATTAGTTGAGCTTAGAAATTGAGAATTTTTAGGAAGGATGATTCTT
CCAGGGATAGAAGTATGATTGAAAGCAATAAACAAGCCCAAAGAAGAAGAGAAGAAAGAAGTTAAAATTATAGTATTATTTTTAGTAAAT
ATTTATGGGAAATAAAAATAGTATAATAGAAGCTGTTAATGCCCGGATCCACTAGGGGCTGGAGACTC-3'

[Top]

RS ID: 34153518 Link_out

Alleles: -/C

Validation:

Not Completed

Details:

Chromosome Reference Position
12 9223167

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000014 Link_out NP_000005 Link_out 3 T [Thr] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGACAATCTTTTTCTTGTAGTCATGGGTCCTAGCGCAGTGCTCTGCACATGGTCAGCATTCATACAAACACATGTGATTATATTTCT
GAGCTGGAAAAAGGATAAGGCTTTGATAGAGATTGACTTTAATAGTATTTTGATATTAGTATTGTCTTATGCTGGGGATACATACATCAT
TAAATAAAATAGGGCAGTCTGGGGTTATGATAAACCTACCATTTTCACTGTTGGCTTCAGGGGAATGAAGCCAGAGACCATCTTCACATC
AACGATCGCCATGTTGGAGGCAGAGCGGCTCCC -/C TGTGTAACTGAGGATCCAGGGGAGGAAAGGATTAGGGTTTTCTGTGTTTTTA
AATATTTTCTTCTTCTATGTCCATGTTAAGCATTCCACAGCTCTAAAAGGTACACGTAAGTCTTCCCAAATATCTTATCCCAGTGGTTTG
TAAAAGTGGTGTGCGTAGAATTTTTAGGAAGCCTGTTAAAGCCACAGAGACCAGGCCCTACTCTAGACCTGATGAATCAGAATGTCTAGT
GTATGGGGGCTGAGGATCTGCATTTTTTTTTTTTGATGGAGTTTTTCGCTCTTCTTGCCCAGGCTGGA-3'

[Top]

RS ID: 3180392 Link_out

Alleles: A/T

Validation:

  • By frequency

Details:

Chromosome Reference Position
12 9243822

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000014 Link_out NP_000005 Link_out 2 L [Leu] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCCTTACTCTGTGATTCGTGGAGAGGCCTTCACACTCAAGGCCACGGTCC A/T AAACTACCTTCCCAAATGCATCCGGGTAAGGA
TCTCTTTCCTAAATTAAA-3'

[Top]

RS ID: 2229298 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By hap map
  • By cluster

Details:

Chromosome Reference Position
12 9258857

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000014 Link_out NP_000005 Link_out 2 R [Arg] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTTCCAGCTGAAGAGGAAGGAGTATGAAATGAAACTTCACACTGAGGCCCAGATCCAAGAAGAAGGAACAGGTTTGTGTACTACATG
GGTATAAGAGAAAACACAACAGGCATTGATTTTCTTAGCCAAATAATGAATTGTAAGTTGGGGGGAGGTGATAGAATTTTAGAGACATCA
TTCTTCCCAAAAATAACAGATTTTTTTCTCTTTTTTCAGTGGTGGAATTGACTGGAAGGCAGTCCAGTGAAATCACAAGAACCATAACCA
AACTCTCATTTGTGAAAGTGGACTCACACTTTC A/G ACAGGGAATTCCCTTCTTTGGGCAGGTGGAGTATTTTCCAGTTCACTCATCA
ACCCATGTACTGTTACCTAATTAGCACAATAGTTATGGTTTGTGCTAAAACCATGCCTGGTTAATGTTATCATTTAATATAACCAAAAGT
ATAAAATATCACCAAGGCTTGATTAGTATAACCAAAGGTATAAAACTACATAAAAATAGATTTATTCTTCTGTAAATTTGTGTATGAAAT
GTATGTAATTATCCTAAGGCCTTATTAAAATTAGTAGAGTTTTCCCCCCTTCTTTTGAAACAGCATTG-3'

[Top]

RS ID: 1802965 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 9221411

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000014 Link_out NP_000005 Link_out 1 F [Phe] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTCAAATCAGACACTGAGCTTGTTC C/T TCACGGTTCTGCAAGATGTCCCAGT-3'

[Top]

RS ID: 1802964 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 9225279

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000014 Link_out NP_000005 Link_out 3 K [Lys] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGCTGCCTGGGGAATACAGCATGAA A/G GTGACAGGAGAAGGATGTGTCTACC-3'

[Top]

RS ID: 1800434 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 9247583

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000014 Link_out NP_000005 Link_out 2 R [Arg] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAAATGCATGGACCTGAAGGTCTAC A/G TGTAGGTTTTTATGGTAAACAAAAA-3'

[Top]

RS ID: 1800433 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 9232351

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000014 Link_out NP_000005 Link_out 2 C [Cys] / Y [Tyr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AATCTTCTCCAGATGCCCTATGGCT A/G TGGAGAGCAGAATATGGTCCTCTTT-3'

[Top]

RS ID: 1049134 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 9256862

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000014 Link_out NP_000005 Link_out 3 N [Asn] / N [Asn]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCTACCACGGATGAGCATGGCCTTGTACAGTTCTCTATCAACACCACCAA C/T GTTATGGGTACCTCTCTTACTGTTAGGGTCAA
TTACAAGGATCGTAGTCC-3'

[Top]

RS ID: 226405 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
12 9248233

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000014 Link_out NP_000005 Link_out 1 D [Asp] / N [Asn]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCTCTATAAATCATCAAAGCAATGAGAGCGCTCAAAGAAAGACGGATGTTCATTATTCCTGTTCTTTTCTCCTTGAACTTAAAAAAT
GTCACAAAggccgggcgcggtggctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatcatgaggtcaggagatcgaga
ccatcctggctaacaaggtgaaaccccgtctctactaaaaatacaaaaaattagccgggcgcggtggcgggcgcctgtagtcccagctac
tcgggaggctgaggcaggagaatggcgtgaacccgggaagcggagcttgcagtgagccgagattgcgccactgcagtccgcggtccggcc
tgggcgacagagcgagactccgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaGTCACAAATAAGTTTGCCTTTTTGTCTTTCGTATTT
GTACAGGTTTACAACCTGCTACCAGAAAAGGACCTCACTGGCTTCCCTGGGCCTTTGAATGACCAGGAC A/G ATGAAGACTGCATCAA
TCGTCATAATGTCTATATTAATGGAATCACATATACTCCAGTATCAAGTACAAATGAAAAGGATATGTACAGCTTCCTAGAGGTAAACTC
CTTATGTTGCAGATGGTCTGATCTTAAGCTTCTTAAAATATTACACATGGAAAAGAGTCTGTATTTGAATGCCTTCATGTCCTAGTTGAG
GGTA-3'

[Top]

RS ID: 226396 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
12 9254226

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000014 Link_out NP_000005 Link_out 3 V [Val] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAAACAAAATCAGGGGTCCTTCTCCCACTTTTCATTGTGGAACAAAAGATTTCTAGCTACTAGTTAAGGTAGGACAGTAAACTTACG
TAGTTTTGTGAGAACATTAATCTTTATGACGTATAATCTAAAAATAATATAATTTTTCTAATTCATTAGGTCAATTACAAGGATCGTAGT
CCCTGTTACGGCTACCAGTGGGT A/G TCAGAAGAACACGAAGAGGCACATCACACTGCTTATCTTGTGTTCTCCCCAAGCAAGAGCTT
TGTCCACCTTGAGCCCATGTCTCATGAACTACCCTGTGGCCATACTCAGACAGTCCAGGCACATTATATTCTGAATGGAGGCACCCTGCT
GGGGCTGAAGAAGCTCTCCTTCTATTATCTGGTGAGAAGGGAGGTTAC-3'

[Top]

RS ID: 669 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By hap map
  • By cluster

Details:

Chromosome Reference Position
12 9232268

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000014 Link_out NP_000005 Link_out 1 I [Ile] / F [Phe]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGGCTTGTTTATTGCTTTCAATCATACTTCTATCCCTGGAAGAATCATCCTTCCTAAAAATTCTCAATTTCTAAGCTCAACTAATTA
TTTCTGCTTAATGACTTTGATAGATGATAATCTCCAAGCTTTATGACTTCCCATCTCTCCCATTCTCTAGGAGACATATTAGGCTCTGCC
ATGCAAAACACACAAAATCTTCTCCAGATGCCCTATGGCTGTGGAGAGCAGAATATGGTCCTCTTTGCTCCTAACATCTATGTACTGGAT
TATCTAAATGAAACACAGCAGCTTACTCCAGAG A/G TCAAGTCCAAGGCCATTGGCTATCTCAACACTGGTGAGTGATTACTTGAGTA
AGGGAAAACTTGAATGTTATTTCAACTGGATTTCCCAGTAGGTTTCAGTTACTTATGAATATTATGATACATTAGCTTAGCTCACTATGA
TAGCTGCTATGATAGTTAATTTCAAGGAAACTATCCACTCTCCAACCTCCAATAAAATATTTAAGGCTCAGAAACTCCTAATCTATGACA
ACAAAATTTAAGAAATGTCACAAGAGAAGCCAAGGTACTTTTAGTAATTTCTCCACCCTCAGCATGCA-3'