SNPJam Report for MMP2

Showing coding SNPs for MMP2 (Gene ID: 4313)

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: 76167967 Link_out

Alleles: C/T

Validation:

  • By frequency

Details:

Chromosome Reference Position
16 55522615

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001127891 Link_out NP_001121363 Link_out 3 F [Phe] / F [Phe]
coding-synonymous NM_004530 Link_out NP_004521 Link_out 3 F [Phe] / F [Phe]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATGTCTCATTCACATCCTTCCCTCTCTCCCCCACCCTTAGCCCTGTTCACCATGGGCGGCAACGCTGAAGGACAGCCCTGCAAGTTT
CCATTCCGCTTCCAGGGCACATCCTATGACAGCTGCACCACTGAGGGCCGCACGGATGGCTACCGCTGGTGCGGCACCACTGAGGACTAC
GACCGCGACAAGAAGTATGGCTT C/T TGCCCTGAGACCGGTGGGTGCCACTCCCTCTCCCTCCCTCAGGGCCCAGCACCTGCTGTCTG
ACAAAAAAAAAACCCATAAGACTCCGAGTGCCCACCTCCTTTCCCCAAGACAGGGGTGCTAAGACATCTGTGCGAATGACATCCACACCA
AGATGTCCGTGTAGCTAGTCAGGATACTTGTCACCTGGTATGGCCTGG-3'

[Top]

RS ID: 71750950 Link_out

Alleles: (LARGEDELETION)/-

Validation:

Not Completed

Details:

Chromosome Reference Position
16 55530976

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_001127891 Link_out NP_001121363 Link_out 2 Not Applicable
frameshift NM_004530 Link_out NP_004521 Link_out 2 Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATGGATGGAGGTAGTCAGGGAAGGCTTCCTGGAGGAGGTAGAGGGAGAGAACAGGGTAGGAGGATGTTTCTCAGCTCCAGCAGATTG
CAGACAGGAACTCTGCCCGTTCTCCAGTCCTTCTCCAACCTTCCTTTGATCCTGCCTCCCACTCCCATCATGGAATCATCTCTGGGATGT
TTCTGGGTGGGTTTGGGGGTGTGTGTGGTTCGAGCTGCAGGGTGACTGAAGATGTGGTTTCCTGTGCCCCCTTGCCTCCTGCCAGGTTCA
TTTGGCGGACTGTGACGCCACGTGACAAGCCCATGGGGCCCCTGCTGGTGGCCACATTCTGGCCTGAGCTCCCGGAAAAGATTGATGCGG
TATACGAGGCCCCACAGGAGGAGAAGGCTGTGTTCTTTGCAGG (LARGEDELETION)/- GAATGAATACTGGATCTACTCAGCCAGC
ACCCTGGAGCGAGGGTACCCCAAGCCACTGACCAGCCTGGGACTGCCCCCTGATGTCCAGCGAGTGGATGCCGCCTTTAACTGGAGCAAA
AACAAGAAGACATACATCTTTGCTGGAGACAAATTCTGGAGGTAAGGGAGGGCGGTGGGTAGGACAGCAGCACAGTTGGCTGCGAGAGAC
AGAGAAGCCGCCCTGAGGCTTCAAGCCTCCTGGGCTGAGTTCAGAGGTTGGTGGGCTCTGGATGCCCTCTCTCTGGTATCTAACCTCTTT
GGTCTCTGGCACCTCTGAGATGTTGCCAAAGGTGAACCATTCTTGTACACATTGCTGATATAATTCTGGTGGAATATCCTTTCTCTTTGC
AGAATTCTTTT-3'

[Top]

RS ID: 59727333 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
16 55525759

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_001127891 Link_out NP_001121363 Link_out 3 M [Met] / I [Ile]
missense NM_004530 Link_out NP_004521 Link_out 3 M [Met] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGAAAAGAAAAAAAAAATCAATACATGCCGCTTCCAGGGTTCTCAGCCTTACTGTGGGGCTGTCCTCAAAAGTCTGCATCACTGGGT
CAGGTCTTGACTTCTCTCTCATCTCTCTTCCTGTCTTTCAACCCTCTCTCCTCCCTGCAACCCTCAGGGTACAGCCTGTTCCTCGTGGCA
GCCCACGAGTTTGGCCACGCCAT A/G GGGCTGGAGCACTCCCAAGACCCTGGGGCCCTGATGGCACCCATTTACACCTACACCAAGAA
CTTCCGTCTGTCCCAGGATGACATCAAGGGCATTCAGGAGCTCTATGGTAAACCTCCGGGCGGGGGTTGGGGGTGGAGGGTGAGGAGGGG
GGAGGTCATGTAGCCTGGGATGGAGGCCCAGGGGGTGGGACCAGCAAG-3'

[Top]

RS ID: 41521545 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
16 55530913

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001127891 Link_out NP_001121363 Link_out 3 L [Leu] / L [Leu]
coding-synonymous NM_004530 Link_out NP_004521 Link_out 3 L [Leu] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTAGAGGGAGAGAACAGGGTAGGAGGATGTTTCTCAGCTCCAGCAGATTGCAGACAGGAACTCTGCCCGTTCTCCAGTCCTTCTCCA
ACCTTCCTTTGATCCTGCCTCCCACTCCCATCATGGAATCATCTCTGGGATGTTTCTGGGTGNGTTTGGGGGNGTGTGTGGTTCGAGCTG
CAGGGTGACTGAAGATGTGGTTTCCTGTGCCCCCTTGCCTCCTGCCAGGTTCATTTGGCGGACTGTGACGCCACGTGACAAGCCCATGGG
GCCCCTGCTGGTGGCCACATTCTGGCCTGAGCT C/T CCGGAAAAGATTGATGCGGTATACGAGGCCCCACAGGAGGAGAAGGCTGTGT
TCTTTGCAGGTGTGTGGGAAGCACCCTTCCTTGGCCCTCAGCTCCACAGGGCTCTGCACCAGGGNTCCTGGGTGTCCCAGGCTCACTCCC
CCTCTCAAACCACAGTTCCTATGCACCCGTGGGTGCTCCCTTTCCTTTATGGATTCATTCTTTCAACATTATTTCCTGAAGTGCGCAGCT
CCTCTGGGAGATTGGTTCCGACACCCAACATCAGATAGCATTAACCCTCAGTGTACACATTTCATTTT-3'

[Top]

RS ID: 41513346 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
16 55523622

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001127891 Link_out NP_001121363 Link_out 1 L [Leu] / L [Leu]
coding-synonymous NM_004530 Link_out NP_004521 Link_out 1 L [Leu] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTGTTGGCTTAGGGAAATTTCATCATCTCTCTGATCTATTTCCCATCCATGAAACGCGGTGCTATTCAGTCCCTCCTGCACAAGGCT
GTTGTCAGGGGTGGGTGAGATGAGTCTAAAGATACAGTGCCTGGGACTGAGTCTAACTTAGGTGTGGTTCATTAAGGTCAGCGTCATGTC
ATTGCTTCCTGGTGGTAGCCTCAGACTCTTTGCTGCGCCTTGACCCGTATCCCTAACCCCACAGCCATGTCCACTGTTGGTGGGAACTCA
GAAGGTGCCCCCTGTGTCTTCCCCTTCACTTTC C/T TGGGCAACAAATATGAGAGCTGCACCAGCGCCGGCCGCAGTGACGGAAAGAT
GTGGTGTGCGACCACAGCCAACTACGATGANGACCGCAAGTGGGGCTTCTGCCCTGACCAAGGTACGAGGCCCTGGTCATTGGACAGAGA
CCCTGGACATTGCCCTTGCCCCTAAACTTGCTCCAAAAACCTTCCTGAGACCTCACCCACTTCAAGCATAGACACTGCCCCCNAGACACC
CACCTACCCAGACCCGCCCACCTGGGCTGAGACAATGCCCATCTCTGGTGGAGCCAAGGTCCCTGCTT-3'

[Top]

RS ID: 41503347 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
16 55513442

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_004530 Link_out NP_004521 Link_out 3 L [Leu] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGGCTGCGCATCTGGGGCTTTAAACATACAAAGGGATTGCCAGGACCTGCGGCGGCGGCGGCGGCGGCGGGGGCTGGGGCGCGGGGG
CCGGACCATGAGCCGCTGAGCCGGGCAAACCCCAGGCCACCGAGCCAGCGGACCCTCGGAGCGCAGCCCTGCGCCGCGGAGCAGGCTCCA
ACCAGGCGGCGAGGCGGCCACACGCACCGAGCCAGCGACCCCCGGGCGACGCGCGGGGCCAGGGAGCGCTACGATGGAGGCGCTAATGGC
CCGGGGCGCGCTCACGGGTCCCCTGAGGGCGCT C/T TGTCTCCTGGGCTGCCTGCTGAGCCACGCCGCCGCCGCGCCGTCGCCCATCA
TCAAGTTCCCCGGCGATGTCGCCCCCAAAACGGACAAAGAGTTGGCAGTGGTGAGTTGCTGCGCTGGCCTCAAGGAACCACGTTTAGACA
AACTTCGGAGGCAAAGGATGGGGGTGTCTCTCCCCCTGNCCTCGGCGGTGGGCACACAGCGTGGGGGAGGGGCTTCGGTAAACAGCTTGG
GGGGTCTTTGGCAAGCTATTGGAGTGATCTCTTGCAAACGGTGGGGGATCTTTTGTAAGCAAAGAAAA-3'

[Top]

RS ID: 41459945 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
16 55536779

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_001127891 Link_out NP_001121363 Link_out 1 V [Val] / I [Ile]
missense NM_004530 Link_out NP_004521 Link_out 1 V [Val] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AAAGTCATATAATTAAAAGTGGTAGATCTGAGGCTCAGACTCAGGTCTGATTCCATGCCCTTCCTTCCACTGCAGCTGGCTGCTTCC
CTGAAGGGCTAGGTCCAGTTTCCGAGGCCTATCCAGGAGCCATCAGCTGGGTGCTCNCATCCAGGCCAGGGGGGAAGTGTCCTTTAGAGA
GGCCCTGCTGGTTCACTGTGTCTGTTTCTTTNCAGATACAATGAGGTGAAGAAGAAAATGGATCCTGGCTTNCCCAAGCTCATCGCAGAT
GCCTGGAATGCCATCCCNGATAACCTGGATGCC A/G TCGTGGACCTGCAGGGCGGCGGTGAGCCACCCAGGACTGTCTCNGCTTTCTA
GGACTCCCCNCCCCTAGCCAGGGCCCAGCTCCTTGCAAATACACACTTCTTTATTGTGCAGGGCAGGCAGGCAGGCGGCGCCCAGGAAAA
CAAATCAACTCCTTCATCCTAGTGCTGGGAAGGTTTCCAGATCCCTGACCTCTGCTCCTTGGCCTGGCTCCAGGCAGTAAGACCCAGAAA
GACTTCTCACAGCTGCAGGGCCTGGAGCCAGGGCAGGGGAGGGCGGAAGGCCTGGGCCAGGGGAGAAG-3'

[Top]

RS ID: 28730814 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
16 55530864

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_001127891 Link_out NP_001121363 Link_out 2 R [Arg] / H [His]
missense NM_004530 Link_out NP_004521 Link_out 2 R [Arg] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGACAGGAACTCTGCCCGTTCTCCAGTCCTTCTCCAACCTTCCTTTGATCCTGCCTCCCACTCCCATCATGGAATCATCTCTGGGAT
GTTTCTGGGTGGGTTTGGGGGTGTGTGTGGTTCGAGCTGCAGGGTGACTGAAGATGTGGTTTCCTGTGCCCCCTTGCCTCCTGCCAGGTT
CATTTGGCGGACTGTGACGCCAC A/G TGACAAGCCCATGGGGCCCCTGCTGGTGGCCACATTCTGGCCTGAGCTCCCGGAAAAGATTG
ATGCGGTATACGAGGCCCCACAGGAGGAGAAGGCTGTGTTCTTTGCAGGTGTGTGGGAAGCACCCTTCCTTGGCCCTCAGCTCCACAGGG
CTCTGCACCAGGGCTCCTGGGTGTCCCAGGCTCACTCCCCCTCTCAAA-3'

[Top]

RS ID: 17859943 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
16 55527073

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_001127891 Link_out NP_001121363 Link_out 2 A [Ala] / V [Val]
missense NM_004530 Link_out NP_004521 Link_out 2 A [Ala] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CATGATACCCCACTCCCAGGGCTATAGAGAGGACTGATTTGGGTGATGTCAGTAAAAAGCATATATAAAGTACAAAGGGCCCCAGGA
CTCCCCAAGTCCAGGCATCTTCTTGTTACCTTACGGAGCTTACACTAAGGCCAGAAGGCGATTTCTTCTGACTCTTAGATGGTTGGGTGG
GCACCCCTGGGGGCTCACCCTAGTGGGGAGAACCTCTGGAGCTGCAGAGAGTCTAAGGTCAGGTGTTCTCCCCAGGGG C/T CTCTCCT
GACATTGACCTTGGCACCGGCCCCACCCCCACGCTGGGCCCTGTCACTCCTGAGATCTGCAAACAGGACATTGTATTTGATGGCATCGCT
CAGATCCGTGGTGAGATCTTCTTCTTCAAGGACCGGTGAGTGCAGGAGCTTGCTTCTTGTCCTCCTTGTCTCCTGTCCTCTGCTCTTATA
CCATTATTCTTTTCCCTCACTCTTCGCTGAAGACTCCACCAAATGCTTCCCAGAATGACCTGAATTAG-3'

[Top]

RS ID: 17859834 Link_out

Alleles: -/AT

Validation:

Not Completed

Details:

Chromosome Reference Position
16 55513392

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_004530 Link_out NP_004521 Link_out 1 Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCTGGAGGCTGCGCATCTGGGGCTTTAAACATACAAAGGGATTGCCAGGACCTGCGGCGGCGGCGGCGGCGGCGGGGGCTGGGGCGC
GGGGGCCGGACCATGAGCCGCTGAGCCGGGCAAACCCCAGGCCACCGAGCCAGCGGACCCTCGGAGCGCAGCCCTGCGCCGCGGAGCAGG
CTCCAACCAGGCGGCGAGGCGGCCACACGCACCGAGCCAGCGACCCCCGGGCGACGCGCGGGGCCAGGGAGCGCTACG -/AT GGAGGC
GCTAATGGCCCGGGGCGCGCTCACGGGTCCCCTGAGGGCGCTCTGTCTCCTGGGCTGCCTGCTGAGCCACGCCGCCGCCGCGCCGTCGCC
CATCATCAAGTTCCCCGGCGATGTCGCCCCCAAAACGGACAAAGAGTTGGCAGTGGTGAGTTGCTGCGCTGGCCTCAAGGAACCACGTTT
AGACAAACTTCGGAGGCAAAGGATGGGGGTGTCTCTCCCCCTGCCCTCGGCGGTGGGCACACAGCGTGG-3'

[Top]

RS ID: 16955280 Link_out

Alleles: C/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
16 55536782

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_001127891 Link_out NP_001121363 Link_out 1 V [Val] / L [Leu]
missense NM_004530 Link_out NP_004521 Link_out 1 V [Val] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GATTCCATGCCCTTCCTTCCACTGCAGCTGGCTGCTTCCCTGAAGGGCTAGGTCCAGTTTCCGAGGCCTATCCAGGAGCCATCAGCT
GGGTGCTCCCATCCAGGCCAGGGGGGAAGTGTCCTTTAGAGAGGCCCTGCTGGTTCACTGTGTCTGTTTCTTTACAGATACAATGAGGTG
AAGAAGAAAATGGATCCTGGCTTCCCCAAGCTCATCGCAGATGCCTGGAATGCCATCCCCGATAACCTGGATGCCGTC C/G TGGACCT
GCAGGGCGGCGGTGAGCCACCCAGGACTGTCTCCGCTTTCTAGGACTCCCCGCCCCTAGCCAGGGCCCAGCTCCTTGCAAATACACACTT
CTTTATTGTGCAGGGCAGGCAGGCAGGCGGCGCCCAGGAAAACAAATCAACTCCTTCATCCTAGTGCTGGGAAGGTTTCCAGATCCCTGA
CCTCTGCTCCTTGGCCTGGCTCCAGGCAGTAAGACCCAGAAAGACTTCTCACAGCTGCAGGGCCTGGA-3'

[Top]

RS ID: 16955236 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
16 55523654

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001127891 Link_out NP_001121363 Link_out 3 A [Ala] / A [Ala]
coding-synonymous NM_004530 Link_out NP_004521 Link_out 3 A [Ala] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCACAAGGCTGTTGTCAGGGGTGGGTGAGATGAGTCTAAAGATACAGTGCCTGGGACTGAGTCTAACTTAGGTGTGGTTCATTAAGG
TCAGCGTCATGTCATTGCTTCCTGGTGGTAGCCTCAGACTCTTTGCTGCGCCTTGACCCGTATCCCTAACCCCACAGCCATGTCCACTGT
TGGTGGGAACTCAGAAGGTGCCCCCTGTGTCTTCCCCTTCACTTTCCTGGGCAACAAATATGAGAGCTGCACCAGCGC C/T GGCCGCA
GTGACGGAAAGATGTGGTGTGCGACCACAGCCAACTACGATGACGACCGCAAGTGGGGCTTCTGCCCTGACCAAGGTACGAGGCCCTGGT
CATTGGACAGAGACCCTGGACATTGCCCTTGCCCCTAAACTTGCTCCAAAAACCTTCCTGAGACCTCACCCACTTCAAGCATAGACACTG
CCCCCCAGACACCCACCTACCCAGACCCGCCCACCTGGGCTGAGACAATGCCCATCTCTGGTGGAGCC-3'

[Top]

RS ID: 11542001 Link_out

Alleles: C/T

Validation:

  • By hap map
  • By cluster

Details:

Chromosome Reference Position
16 55519572

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_001127891 Link_out NP_001121363 Link_out 1 F [Phe] / L [Leu]
missense NM_004530 Link_out NP_004521 Link_out 1 F [Phe] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGGCCTGGAGAAGTCCAACCTCCCCCTTCCATGTCACTCTTTAGTGGTCCGTGTGAAGTATGGGAACGCCGATGGGGAGTACTGCAA
GTTCCCCTTCTTG C/T TCAATGGCAAGGAGTACAACAGCTGCACTGATACCGGCCGCAGCGATGGCTTCCTCTGGTGCTCCACCACCT
ACAACTTTGAGAAGGATGGCAAGTACGG-3'

[Top]

RS ID: 11541998 Link_out

Alleles: C/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
16 55536763

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001127891 Link_out NP_001121363 Link_out 3 P [Pro] / P [Pro]
coding-synonymous NM_004530 Link_out NP_004521 Link_out 3 P [Pro] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTTTACAGCTGGTAAAACTGTAGCTGTATGGAAAGTGGTTAACACACTGTTTGGCATGTAGTAAGTGCTTTATAAATGTTAGCAGTA
ATCATGAGATTGTTTTTATGGGGTCATCCAAAGTCATATAATTAAAAGTGGTAGATCTGAGGCTCAGACTCAGGTCTGATTCCATGCCCT
TCCTTCCACTGCAGCTGGCTGCTTCCCTGAAGGGCTAGGTCCAGTTTCCGAGGCCTATCCAGGAGCCATCAGCTGGGTGCTCCCATCCAG
GCCAGGGGGGAAGTGTCCTTTAGAGAGGCCCTGCTGGTTCACTGTGTCTGTTTCTTTACAGATACAATGAGGTGAAGAAGAAAATGGATC
CTGGCTTCCCCAAGCTCATCGCAGATGCCTGGAATGCCATCCC C/G GATAACCTGGATGCCGTCGTGGACCTGCAGGGCGGCGGTGAG
CCACCCAGGACTGTCTCCGCTTTCTAGGACTCCCCGCCCCTAGCCAGGGCCCAGCTCCTTGCAAATACACACTTCTTTATTGTGCAGGGC
AGGCAGGCAGGCGGCGCCCAGGAAAACAAATCAACTCCTTCATCCTAGTGCTGGGAAGGTTTCCAGATCCCTGACCTCTGCTCCTTGGCC
TGGCTCCAGGCAGTAAGACCCAGAAAGACTTCTCACAGCTGCAGGGCCTGGAGCCAGGGCAGGGGAGGGCGGAAGGCCTGGGCCAGGGGA
GAAGGAACATGGGCTCTGTGCCGTGGATTCATTCTGGGGTTTGATCCAGGCCCATTTGCGTTTTGCAGGAGGCCTGTGACCACCTCCC-3
'

[Top]

RS ID: 2287074 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By hap map
  • By cluster

Details:

Chromosome Reference Position
16 55527113

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001127891 Link_out NP_001121363 Link_out 3 T [Thr] / T [Thr]
coding-synonymous NM_004530 Link_out NP_004521 Link_out 3 T [Thr] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCCTGACTCTTGTGGGCATAAGAATCTGAGCTTTGGGTTTGAATCCTTGGGCAAGTCACTCAACTTTTCTGGGCCTCAGTTTCCTCA
CCTGTGAAATGGTGCAATCATGATACCCCACTCCCAGGGCTATAGAGAGGACTGATTTGGGTGATGTCAGTAAAAAGCATATATAAAGTA
CAAAGGGCCCCAGGACTCCCCAAGTCCAGGCATCTTCTTGTTACCTTACGGAGCTTACACTAAGGCCAGAAGGCGATTTCTTCTGACTCT
TAGATGGTTGGGTGGGCACCCCTGGGGGCTCACCCTAGTGGGGAGAACCTCTGGAGCTGCAGAGAGTCTAAGGTCAGGTGTTCTCCCCAG
GGGCCTCTCCTGACATTGACCTTGGCACCGGCCCCACCCCCAC A/G CTGGGCCCTGTCACTCCTGAGATCTGCAAACAGGACATTGTA
TTTGATGGCATCGCTCAGATCCGTGGTGAGATCTTCTTCTTCAAGGACCGGTGAGTGCAGGAGCTTGCTTCTTGTCCTCCTTGTCTCCTG
TCCTCTGCTCTTATACCATTATTCTTTTCCCTCACTCTTCGCTGAAGACTCCGCCAAATGCTTCCCAGAATGACCTGAATTAGGCAGTTT
CTGCTGTGTATCAAACAACCTCCAGGTTTCAGTGGATTTGCACCCAAGCATTTTGTTTGCTCTCTCATAGTCTGTGGGTCTACTAGTTAT
CTTGACTTTCAGCTACAGTTTGGGTTCAGGTGTGCTCTGCCTGTTGTTCTCATGGGATTAGCAGCTACTCATGGCAGATGACAGGGTG-3
'

[Top]

RS ID: 1132896 Link_out

Alleles: C/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
16 55519535

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001127891 Link_out NP_001121363 Link_out 3 G [Gly] / G [Gly]
coding-synonymous NM_004530 Link_out NP_004521 Link_out 3 G [Gly] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACATGTAGATGGGGTGTGGAGGGGTTTCAGGGTCTAGGTGGCACAGCTAGACGCTAAGACCCAGTGTGTGTTTCAGAGCATGGCGAT
GGATACCCCTTTGACGGTAAGGACGGACTCCTGGCTCATGCCTTCGCCCCAGGCACTGGTGTTGGGGGAGACTCCCATTTTGATGACGAT
GAGCTATGGACCTTGGGAGAAGGCCAAGGTGAGAAAGGGGCCCTCTGCATGCCCCAGACCTTCTCTCCTGTCCTCTCTCCACTCCATTTG
CTTGGACCAGAGAGGTGGGAGGGGAGGAAAGTCACACATCTGGGTGAGTCAGAATCTTGGTCTCCAAAGAAGGCCTGGAGAAGTCCAACC
TCCCCCTTCCATGTCACTCTTTAGTGGTCCGTGTGAAGTATGG C/G AACGCCGATGGGGAGTACTGCAAGTTCCCCTTCTTGTTCAAT
GGCAAGGAGTACAACAGCTGCACTGATACCGGCCGCAGCGATGGCTTCCTCTGGTGCTCCACCACCTACAACTTTGAGAAGGATGGCAAG
TACGGCTTCTGTCCCCATGAAGGTGAGCATCCACTCTAGTCCCCAAGACTTTCCACCCCAAGCCTCCAGCTTCCCGGGCTCCCCAGTGTG
CTCTTCCCTCCACACTCTCCAGGACTGGCTGCCACTGCCAGTTAATGAGCATCCCTCCAACGTCCTTCACTCAGTTCCCCCCCATCCTGA
TCTGAGCCATTGCTGTTTCTCTCCCACCAGTACCATGATGAACGTAGTACTCTAATTAAATCAAGTTGATTTTTTTTAAGTTTCACCA-3
'

[Top]

RS ID: 1053605 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By submitter
  • By cluster

Details:

Chromosome Reference Position
16 55519607

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001127891 Link_out NP_001121363 Link_out 3 T [Thr] / T [Thr]
coding-synonymous NM_004530 Link_out NP_004521 Link_out 3 T [Thr] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCAGAGCATGGCGATGGATACCCCTTTGACGGTAAGGACGGACTCCTGGCTCATGCCTTCGCCCCAGGCACTGGTGTTGGGGGAGAC
TCCCATTTTGATGACGATGAGCTATGGACCTTGGGAGAAGGCCAAGGTGAGAAAGGGGCCCTCTGCATGCCCCAGACCTTCTCTCCTGTC
CTCTCTCCACTCCATTTGCTTGGACCAGAGAGGTGGGAGGGGAGGAAAGTCACACATCTGGGTGAGTCAGAATCTTGGTCTCCAAAGAAG
GCCTGGAGAAGTCCAACCTCCCCCTTCCATGTCACTCTTTAGTGGTCCGTGTGAAGTATGGGAACGCCGATGGGGAGTACTGCAAGTTCC
CCTTCTTGTTCAATGGCAAGGAGTACAACAGCTGCACTGATAC C/T GGCCGCAGCGATGGCTTCCTCTGGTGCTCCACCACCTACAAC
TTTGAGAAGGATGGCAAGTACGGCTTCTGTCCCCATGAAGGTGAGCATCCACTCTAGTCCCCAAGACTTTCCACCCCAAGCCTCCAGCTT
CCCGGGCTCCCCAGTGTGCTCTTCCCTCCACACTCTCCAGGACTGGCTGCCACTGCCAGTTAATGAGCATCCCTCCAACGTCCTTCACTC
AGTTCCCCCCCATCCTGATCTGAGCCATTGCTGTTTCTCTCCCACCAGTACCATGATGAACGTAGTACTCTAATTAAATCAAGTTGATTT
TTTTTAAGTTTCACCATTAGCAATCATTTAGGAAGTCACAGATTTGATTTGCTAATTATTTATTTCTAATATATATTGGAGTGAACTT-3
'

[Top]

RS ID: 243863 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
16 55513470

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_004530 Link_out NP_004521 Link_out 1 A [Ala] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCCTTGAGGCCAGCGCAGCAACTCACCACTGCCAACTCTTTGTCCGTTTTGGGGGCGACATCGCCGGGGAACTTGATGATGGGCGAC
GGCGCGGCGGCGG A/C GTGGCTCAGCAGGCAGCCCAGGAGACAGAGCGCCCTCAGGGGACCCGTGAGCGCGCCCCGGGCCATTAGCGC
CTCCATCGTAGCGCTCCCTGGCCCCGCG-3'

[Top]

RS ID: 243849 Link_out

Alleles: C/T

Validation:

  • By cluster
  • By frequency
  • By submitter
  • By hap map

Details:

Chromosome Reference Position
16 55523705

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001127891 Link_out NP_001121363 Link_out 3 D [Asp] / D [Asp]
coding-synonymous NM_004530 Link_out NP_004521 Link_out 3 D [Asp] / D [Asp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGCTGTTGTCAGGGGTGGGTGAGATGAGTCTAAAGATACAGTGCCTGGGACTGAGTCTAACTTAGGTGTGGTTCATTAAGGTCAGCG
TCATGTCATTGCTTCCTGGTGGTAGCCTCAGACTCTTTGCTGCGCCTTGACCCGTATCCCTAACCCCACAGCCATGTCCACTGTTGGTGG
GAACTCAGAAGGTGCCCCCTGTGTCTTCCCCTTCACTTTCNTGGGCAACAAATATGAGAGCTGCACCAGCGCCGGCCGCAGTGACGGAAA
GATGTGGTGTGCGACCACAGCCAACTACGATGA C/T GACCGCAAGTGGGGCTTCTGCCCTGACCAAGGTACGAGGCCCTGGTCATTGG
ACAGAGACCCTGGACATTGCCCTTGCCCCTAAACTTGCTCCAAAAACCTTCCTGAGACCTCACCCACTTCAAGCATAGACACTGCCCCCN
AGACACCCACCTACCCAGACCCGCCCACCTGGGCTGAGACAATGCCCATCTCTGGTGGAGCCAAGGTCCCTGCTTAGATCCTGCCCATCC
AGGTGGAGGCACAGCCTCCAAAATCAGACCCTGGTAGACCAGATGCTGCTACTCACCTCCTGGGTAAG-3'

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RS ID: 14070 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By hap map
  • By cluster

Details:

Chromosome Reference Position
16 55536727

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001127891 Link_out NP_001121363 Link_out 3 F [Phe] / F [Phe]
coding-synonymous NM_004530 Link_out NP_004521 Link_out 3 F [Phe] / F [Phe]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CATTAAATTAAATACACTAAATTAGACACAACCCCATTTTACAGCTGGTAAAACTGTAGCTGTATGGAAAGTGGTTAACACACTGTT
TGGCATGTAGTAAGTGCTTTATAAATGTTAGCAGTAATCATGAGATTGTTTTTATGGGGTCATCCAAAGTCATATAATTAAAAGTGGTAG
ATCTGAGGCTCAGACTCAGGTCTGATTCCATGCCCTTCCTTCCACTGCAGCTGGCTGCTTCCCTGAAGGGCTAGGTCCAGTTTCCGAGGC
CTATCCAGGAGCCATCAGCTGGGTGCTCCCATCCAGGCCAGGGGGGAAGTGTCCTTTAGAGAGGCCCTGCTGGTTCACTGTGTCTGTTTC
TTTACAGATACAATGAGGTGAAGAAGAAAATGGATCCTGGCTT C/T CCCAAGCTCATCGCAGATGCCTGGAATGCCATCCCCGATAAC
CTGGATGCCGTCGTGGACCTGCAGGGCGGCGGTGAGCCACCCAGGACTGTCTCCGCTTTCTAGGACTCCCCGCCCCTAGCCAGGGCCCAG
CTCCTTGCAAATACACACTTCTTTATTGTGCAGGGCAGGCAGGCAGGCGGCGCCCAGGAAAACAAATCAACTCCTTCATCCTAGTGCTGG
GAAGGTTTCCAGATCCCTGACCTCTGCTCCTTGGCCTGGCTCCAGGCAGTAAGACCCAGAAAGACTTCTCACAGCTGCAGGGCCTGGAGC
CAGGGCAGGGGAGGGCGGAAGGCCTGGGCCAGGGGAGAAGGAACATGGGCTCTGTGCCGTGGATTCATTCTGGGGTTTGATCCAGGCC-3
'