SNPJam Report for ITGB2

Showing coding SNPs for ITGB2 (Gene ID: 3689)

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: 61747615 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
21 46310053

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000211 Link_out NP_000202 Link_out 3 K [Lys] / N [Asn]
missense NM_001127491 Link_out NP_001120963 Link_out 3 K [Lys] / N [Asn]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGCCCGCAGACACAGTCCCCCAGCCCTGAGCAGATGATGGAGTTGTTGTC A/G TTCCGGCAGCTTCCTTCCAGCTCCTGGCTGCT
CCGGCCCTGTGTCTGGCA-3'

[Top]

RS ID: 61747606 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
21 46309915

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000211 Link_out NP_000202 Link_out 3 N [Asn] / N [Asn]
coding-synonymous NM_001127491 Link_out NP_001120963 Link_out 3 N [Asn] / N [Asn]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGCGGGGTGCAGGGCCATCCAAGTTCCTGCTGACGCCCGGTGGCTGGGCGAGACTTGCACTGTCTGTCCTCAGGATCCCCCCTTTCT
GTTCCACTCGTTGAATGGTCCAGAACGCACCCCCCAACACCAAGTCTGTGCCGCAGGACGGCCGTTGTCCAGCAGGGACCCACGGGCTCA
CCCGGGCCGCCGCAGACCTGGCC A/G TTGTAGCGCTCACAGTTGATGGTGTCACACTCGCAGTACTGCCCGTATATCAGCTTGCCGGG
GACGTCGCTGGTGTGGCACAGGCACTGCCCGCAGACACAGTCCCCCAGCCCTGAGCAGATGATGGAGTTGTTGTCCTTCCGGCAGCTTCC
TTCCAGCTCCTGGCTGCTCCGGCCCTGTGTCTGGCACTCACAGTTTTT-3'

[Top]

RS ID: 61737081 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
21 46314967

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000211 Link_out NP_000202 Link_out 3 T [Thr] / T [Thr]
coding-synonymous NM_001127491 Link_out NP_001120963 Link_out 3 T [Thr] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTGCTGGAGTCCTCAGACAGCTCCCCCACGGCTGACTTGGGGATGATCTC C/T GTGAGTTTCTGTTGGGCAAGAAGACCAGACAT
GGCACGGCTAGGACCTGT-3'

[Top]

RS ID: 61737080 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
21 46313397

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
nonsense NM_000211 Link_out NP_000202 Link_out 3 Y [Tyr] / X
nonsense NM_001127491 Link_out NP_001120963 Link_out 3 Y [Tyr] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCACCTCTGGGCTGGTTCCTGTGCGTCACTCCATTGCTGCAGAAGGAGTC C/T TAGGTGACTTTCAGGGTGTCGGGGAGGGCGTT
GTGATCCAGGAAGACCCT-3'

[Top]

RS ID: 61737079 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
21 46313357

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000211 Link_out NP_000202 Link_out 1 P [Pro] / A [Ala]
missense NM_001127491 Link_out NP_001120963 Link_out 1 P [Pro] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGCCAGGCTCACCGGGACATTGATCTGCACGCCATCACAGTCACCTCTGG C/T CTGGTTCCTGTGCGTCACTCCATTGCTGCAGA
AGGAGTCGTAGGTGACTT-3'

[Top]

RS ID: 61737078 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
21 46330685

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000211 Link_out NP_000202 Link_out 1 R [Arg] / G [Gly]
missense NM_001127491 Link_out NP_001120963 Link_out 1 R [Arg] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTCACCGCACCCGAGGGAGAGCAGCCCCACCAGGGCGAGCAGTGGGGGGC C/T CAGGCCCAGCATGTCCTGTGGAGGGAAGGGGT
CTTGGTGACGGTCTCAGG-3'

[Top]

RS ID: 61737077 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
21 46320322

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000211 Link_out NP_000202 Link_out 3 A [Ala] / A [Ala]
coding-synonymous NM_001127491 Link_out NP_001120963 Link_out 3 A [Ala] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGACAGCGGCCGTCGTTGGGGGTCAGGATGGCGCCCAGCTTCCCGTCGCC A/G GCGAAATGGAAGCCGTCATCAGTGGCAAACAC
CAGCAGCCGCGTGACGTT-3'

[Top]

RS ID: 36062965 Link_out

Alleles: AG/GA

Validation:

Not Completed

Details:

Chromosome Reference Position
21 46326952

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000211 Link_out NP_000202 Link_out 1 L [Leu] / S [Ser]
missense NM_001127491 Link_out NP_001120963 Link_out 1 L [Leu] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGGGCACTGAGGAGCTCAGCTTTCCAGCAGCCTTGGGGCTTCACTGGCCCACACACCCGTCCGACCCGGACACATGCCTTCTGGGCA
GCCCTGACACCCCAGAGCAGGGCCGGACTCCCAGCCAGAGCCAATAACCAGCACAGACGGTGCCTGGCACCACCACCGAGGCCAAGCCTA
CCTGGTCGCAGGTAAAGCGTCACTTTTTGTGGGGACAGCTGCTTCTGGCCCCCATTGTGGTCTTCCTGGGTTTCAGCGAGGCTTGTGGGG
TCCATGATGTCGTCAGCCGCACAGCCCCTCATG AG/GA CAGCTGTGGCCGGGTGTCGCAGCGAATGGAGTCAGGATCCCCCGGCCCTG
TGAAGTTCTGGGGAGGGGGAGTCAGGGGTCAGGAGGGGGCCACACTGCGGGACCTGCAGGAGGCTGACTGGCCATGGAGGACTGAGGACC
CACCCTGTCCCCTCCTCCTCTGCGCCTGGAATTTGGGACAGAAGTCCCTGTGGACAGAGACAGGGAGCTCCTTCAGCCTCCCAGACAGCC
CCTCCCTGAAGGCTCCCGGCCACAGCAGACCCCTGGGGGGCAGGGTATCGCCTCCTCCTCTGCCTCTAGC-3'

[Top]

RS ID: 35903905 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
21 46330229

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000211 Link_out NP_000202 Link_out 3 S [Ser] / S [Ser]
coding-synonymous NM_001127491 Link_out NP_001120963 Link_out 3 S [Ser] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGGTGGTGGCGAATGCGGGGTCTCCTCCTGGAGGCTGCCTCCCTGTCTTTTTGGGCCTCCTCTGACCTTCCTGCTCTACTCCCCCTT
GGGTGTGGGCAGGGCGGCCCAGAGCACCCACTCACCAGCCGGCCTCGTCCCTCAGTCCTCTCTCAGGAGTGCACGAAGTTCAAGGTCAGC
AGCTGCCGGGAATGCATCGAGTC A/G GGGCCCGGCTGCACCTGGTGCCAGAAGCTGGTAAGTGCCTCCTGGACCCCTCCCCACCTGCC
CAGCTCCTGGGTGAGGGCCCTTTCCTGCCCCTGAAGCCAGTGGCACCCAGAGGACCAACAACTCCATTTTCTTTTTGAGGGGGTCCCCAG
ACCCTGGCCTCACCCTCCCCTCAAGGGGCCCCTGAGGTTCTGATGTGT-3'

[Top]

RS ID: 35370671 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
21 46319069

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000211 Link_out NP_000202 Link_out 3 P [Pro] / P [Pro]
coding-synonymous NM_001127491 Link_out NP_001120963 Link_out 3 P [Pro] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGAAGCCTTGTCCTGGACTCGGGGCCAACTGAGCAGGACCTCCTCTCTCCAGGACTACCC A/G TCGGTGGGCCAGCTGGCGCACA
AGCTGGCTGAAAACAACATCCAGCCCATCTTCGCGGTG-3'

[Top]

RS ID: 35365196 Link_out

Alleles: -/C

Validation:

Not Completed

Details:

Chromosome Reference Position
21 46310023

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000211 Link_out NP_000202 Link_out 2 L [Leu] / R [Arg]
frameshift NM_001127491 Link_out NP_001120963 Link_out 2 L [Leu] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAGGGCCATCCAAGTTCCTGCTGACGCCCGGTGGCTGGGCGAGACTTGCACTGTCTGTCCTCAGGATCCCCCCTTTCTGTTCCACTC
GTTGAATGGTCCAGAACGCACCCCCCAACACCAAGTCTGTGCCGCAGGACGGCCGTTGTCCAGCAGGGACCCACGGGCTCACCCGGGCCG
CCGCAGACCTGGCCGTTGTAGCGCTCACAGTTGATGGTGTCACACTCGCAGTACTGCCCGTATATCAGCTTGCCGGGGACGTCGCTGGTG
TGGCACAGGCACTGCCCGCAGACACAGTCCCCC -/C AGCCCTGAGCAGATGATGGAGTTGTTGTCCTTCCGGCAGCTTCCTTCCAGCT
CCTGGCTGCTCCGGCCCTGTGTCTGGCACTCACAGTTTTTCCCAATGTAGCCAGTGTCACACCTGGGGACAGGAGGGGCCCCAAGGTCAG
GCTCCCCCCAGTGATGTGGGACAAGGGACAGCCGCCCTGTCCTCCAGGCCCCTTGCCCTTGGTGGAGAACACCCCTATGGCACATTTTGC
TTTCCTCGAGGCCTACTGAGCACTTGCCACGGACTAAATGTGCTCAAAACGTGCAGGGGCCCCGCGTT-3'

[Top]

RS ID: 35013643 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
21 46320283

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000211 Link_out NP_000202 Link_out 3 D [Asp] / D [Asp]
coding-synonymous NM_001127491 Link_out NP_001120963 Link_out 3 D [Asp] / D [Asp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGATGACGGCTTCCATTTCGCGGGCGACGGGAAGCTGGGCGCCATCCTGACCCCCAACGA C/T GGCCGCTGTCACCTGGAGGACA
ACTTGTACAAGAGGAGCAACGAATTCGTAAGTCCCCAC-3'

[Top]

RS ID: 34737082 Link_out

Alleles: -/TTCC

Validation:

Not Completed

Details:

Chromosome Reference Position
21 46311808

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000211 Link_out NP_000202 Link_out 2 P [Pro] / LP
frameshift NM_001127491 Link_out NP_001120963 Link_out 2 P [Pro] / LP

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGGAGCAGTCGTTTGTCATCCGGGCGCTGGGCTTCACGGACATAGTGACCGTGCAGGTTC -/TTCC CCAGTGTGAGTGCCGGTGC
CGGGACCAGAGCAGAGACCGCAGCCTCTGCCATGGCAAGGG-3'

[Top]

RS ID: 17004713 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
21 46308795

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000211 Link_out NP_000202 Link_out 3 C [Cys] / C [Cys]
coding-synonymous NM_001127491 Link_out NP_001120963 Link_out 3 C [Cys] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCTCCTTGCAGGTCCTGCCCTTCACGGGGTTGTTCGACAGCTGCAGGCCCGGACACGCCGCGCTGCAGTTCTTCCCAAAGGGGCCCT
TTTCGAACTTCAG A/G CACTCGGCGCAGGAGCTGCGGGGAGCCAGGTGTGAGCATCGGTGCCAGGGTGTGCGGGGGCTCCGGCAACGG
GGGCTCGGGCTTGGGTGTGTGTCCACCA-3'

[Top]

RS ID: 11088969 Link_out

Alleles: A/C

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
21 46330674

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000211 Link_out NP_000202 Link_out 3 L [Leu] / L [Leu]
coding-synonymous NM_001127491 Link_out NP_001120963 Link_out 3 L [Leu] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCACCCCCAGGTGCAAAGAGGGGCCCTCGGGAAACAGCACAGCTACAGCCTCCTGGCACGTGCGGAGACGAGGCCTGAGTCCCCGAC
CTACCCCCAGTGGCAAGGTCCTTCCCCAGCCTCCCGGGAACTTCTGTCTATGGGAAAGTGAGGGCAGGCCCTGTTCTCCCTGATTGGAAT
GTCACGCGTGGAGTCCCCTCCGTGGAACACAGAACTCACCGCACCCGAGGGAGAGCAGCCCCACCAGGGCGAG A/C AGTGGGGGGCGC
AGGCCCAGCATGTCCTGTGGAGGGAAGGGGTCTTGGTGACGGTCTCAGGCCCAACCCCTGGGGCTGACCACCCATGAAGCTCCCCTCCAG
CTGGCCTGGGACAAGGAGCTGGGGCCCTGTCCCTGCTGCAGGGGGTGGGTTAGGGTCAGGCCAGCACAGCTGCACTGGGCCCAGCTGCCA
ACAGCCAGGGAGGGAGGGATCCCGGGCTCAGCAGTGCGGGCAGCACACCTGCTCAGCC-3'

[Top]

RS ID: 5844205 Link_out

Alleles: -/T

Validation:

Not Completed

Details:

Chromosome Reference Position
21 46308609

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000211 Link_out NP_000202 Link_out 3 Not Applicable
frameshift NM_001127491 Link_out NP_001120963 Link_out 3 Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAAAGGAGCCTCACGCAGCAACCTGACCGCGGGCCACCCCTGGGGACCTGCAACTGCAAGCCTTGCCCCATGAGGCATCCAGCGGGA
GATGGCCCGGGCCGTGTGGCATGCTGGTGGGCCTGCCCGGTGTGGAGCAGTGGTGCCCCCAGGGAGCAGGCCGTCTGCTGCCCAGCTTGA
TGTGGGGTCAGGTGAGGAGGGGAGGGAAAGGGGAGGCTGCTGGGGGTGAGGGGACCGGCCTCTGGCCTCCTTGCAATGCCAAGGGCATCC
CGCATGGCTCATCCACCCTGCTGGGCCCACAACACTGGAGGTGAGATCCTCCTTCCGCACCACCCTCGCCTCTGCGGAGACCCCGCAGCC
GGAGCTCTGGAGCCGGTCCCCGCTGCACCCCAGCGGCCTCACC -/T CGGCTCTCATCCACATAGATGAGGTAGCGGTCCATCCCGTCC
TGCTGCTCCAGCGTGTAGGCCACCCAGCAGCCCTCTGAGTCCCTCTCCTTGCAGGTCCTGCCCTTCACGGGGTTGTTCGACAGCTGCAGG
CCCGGACACGCCGCGCTGCAGTTCTTCCCAAAGGGGCCCTTTTCGAACTTCAGGCACTCGGCGCAGGAGCTGCGGGGAGCCAGGTGTGAG
CATCGGTGCCAGGGTGTGCGGGGGCTCCGGCAACGGGGGCTCGGGCTTGGGTGTGTGTCCACCAGGGGGGGCAGGTGGGGTTGGGGCGCC
CTCAGGCCAAGGAGGGGGCCCAAGTGGGGCAGATGCGGGTGCAGCGGGTGAACTGGAAGCCTGATCCCAGGGCCCGCGGCAGGTGCGC-3
'

[Top]

RS ID: 5030667 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
21 46330667

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000211 Link_out NP_000202 Link_out 1 L [Leu] / L [Leu]
coding-synonymous NM_001127491 Link_out NP_001120963 Link_out 1 L [Leu] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTGGCAGCTGGGCCCAGTGCAGCTGTGCTGGCCTGACCCTAACCCACCCCCTGCAGCAGGGACAGGGCCCCAGCTCCTTGTCCCAGG
CCAGCTGGAGGGGAGCTTCATGGGTGGTCAGCCCCAGGGGTTGGGCCTGAGACCGTCACCAAGACCCCTTCCCTCCACAGGACATGCTGG
GCCTGCGCCCCCCACTGCTCGCC C/T TGGTGGGGCTGCTCTCCCTCGGGTGCGGTGAGTTCTGTGTTCCACGGAGGGGACTCCACGCG
TGACATTCCAATCAGGGAGAACAGGGCCTGCCCTCACTTTCCCATAGACAGAAGTTCCCGGGAGGCTGGGGAAGGACCTTGCCACTGGGG
GTAGGTCGGGGACTCAGGCCTCGTCTCCGCACGTGCCAGGAGGCTGTA-3'

[Top]

RS ID: 2230531 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
21 46308800

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000211 Link_out NP_000202 Link_out 1 E [Glu] / K [Lys]
missense NM_001127491 Link_out NP_001120963 Link_out 1 E [Glu] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAGGGCTGCCTGAACCCGCGGCGTGTTGAGTGTAGTGGTCGTGGCCGGTGCCGCTGCAACGTATGCGAGTGCCATTCAGGCTACCAG
CTGCCTCTGTGCCAGGAGTGCCCCGGCTGCCCCTCACCCTGTGGCAAGTACATCTCCTGCGCC A/G AGTGCCTGAAGTTCGAAAAGGG
CCCCTTTGGGAAGAACTGCAGCGCGGCGTGTCCGGGCCTGCAGCTGTCGAACAACCCCGTGAAGGGCAGGACCTGCAAGGAGAGGGACTC
AGAGGGCTGCTGGGTGGCCTACACGCTGGAGCAGCAGG-3'

[Top]

RS ID: 2230530 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By hap map

Details:

Chromosome Reference Position
21 46310008

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000211 Link_out NP_000202 Link_out 3 C [Cys] / C [Cys]
coding-synonymous NM_001127491 Link_out NP_001120963 Link_out 3 C [Cys] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTTGGAGTGCGGCATCTGCAGGTGTGACACTGGCTACATTGGGAAAAACTGTGAGTGCCAGACACAGGGCCGGAGCAGCCAGGAGCT
GGAAGGAAGCTGCCGGAAGGACAACAACTCCATCATCTGCTCAGGGCTGGGGGACTGTGTCTG C/T GGGCAGTGCCTGTGCCACACCA
GCGACGTCCCCGGCAAGCTGATATACGGGCAGTACTGCGAGTGTGACACCATCAACTGTGAGCGCTACAACGGCCAGGTCTGCGGCGGCC
CGGGGAGGGGGCTCTGCTTCTGCGGGAAGTGCCGCTGC-3'

[Top]

RS ID: 2230529 Link_out

Alleles: A/C

Validation:

  • By frequency
  • By hap map
  • By cluster

Details:

Chromosome Reference Position
21 46313442

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000211 Link_out NP_000202 Link_out 3 V [Val] / V [Val]
coding-synonymous NM_001127491 Link_out NP_001120963 Link_out 3 V [Val] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTCCTGGGGACTCAAGGCTGAGGAGCAGCAGAAGCTCCCACCCCTGAGGCTCACACCCTGGCTCCATGCTAGTCCCTGTGGTCAGGC
TGTCTCGAGGGCAGGACTGTGGCCCTGGCAGCCCTGCCATCCTCAGCACATCCTGCTGTGCTCTCCTCTGTGTCATTAGCTGACACTGGG
GACTTGCACTGAGAGGAGAAGTGGAGACGGGTCTAAACCGCTGGGCCAGGCAGGGCCAGGACAACAGAAACACTCGCCCCCAAGAGTAAC
CGCTCTCTGCCCGCAGAAACTCTCCTCCAGGGT A/C TTCCTGGATCACAACGCCCTCCCCGACACCCTGAAAGTCACCTACGACTCCT
TCTGCAGCAATGGAGTGACGCACAGGAACCAGCCCAGAGGTGACTGTGATGGCGTGCAGATCAATGTCCCGGTGAGCCTGGCCACAAGGG
TCCCCATCCCAGCTTGCTGAGGGGCTCTGGGGACAGCCAGAAGGAGCCAGGGTCCCCATCCCAGCACACTGAGGGGTCCTGGGGACAGCC
AGAAGGAGCCAGGGTCCCCATCCCAGCACTCTGACGGGGGCAGGGAGGGGCACACAGGCATCAGAGGC-3'

[Top]

RS ID: 2230528 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By submitter
  • By cluster

Details:

Chromosome Reference Position
21 46320313

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000211 Link_out NP_000202 Link_out 3 G [Gly] / G [Gly]
coding-synonymous NM_001127491 Link_out NP_001120963 Link_out 3 G [Gly] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTCCTGGGCGTGGCGTCTGGGGGAACACAGCTGGGTCCCTGAGACCCAGGGGAAAGGGGGACCCACACCAGCCTCCGGGCCACCCCA
CCAGCTCTGCATCGTCTCCTCTGCTCCAGAGGGCCGGGTCTGGGAAACTGAGGCAGGTAACCCTGCCCCCCACGCCTTCTTCTCAGGAGG
AAATCGGCTGGCGCAACGTCACGCGGCTGCTGGTGTTTGCCACTGATGACGGCTTCCATTTCGCGGGCGACGG A/G AAGCTGGGCGCC
ATCCTGACCCCCAACGACGGCCGCTGTCACCTGGAGGACAACTTGTACAAGAGGAGCAACGAATTCGTAAGTCCCCACCCCAGGCACCCA
GGCACCGCCTGGCAGGACACCACTGACGGAGGAGACAAGGGTGGGGTCTCCACCTGACAGAGCCTCCTTCTGACCCAAGGAGCAGATTCC
TGAGGAAACTTCTGGAAGCCCCAAGTGGCAGCGTGGGGTCTCCCCGGACTGGCCTCAG-3'

[Top]

RS ID: 235330 Link_out

Alleles: A/T

Validation:

  • By hap map
  • By cluster

Details:

Chromosome Reference Position
21 46314907

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000211 Link_out NP_000202 Link_out 3 Q [Gln] / H [His]
missense NM_001127491 Link_out NP_001120963 Link_out 3 Q [Gln] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAGACCCGCAGAGAAGAGTCTGGAATGAAGAGTCCGGAGCTCAGGTTTCAGGGAGCATCGCCCACAACATCAACGAGAGAGGACCCA
GAGCTCCCCGTGGAAGTGCCGGGCCAGGGTGTCCTGGAGGCCTGAGGGCAGGTCGGGAGGCTGCAGCTGGCCCACGGGGCAGGGGCTTTC
CTCCCAGACCACCCTCCTGCTGACCTGCAGCAGGAGCTGACCTGCAGTGGGGAGATTGCTGGCCACCCCATGGGTCCCAGCTGAGTGGTG
CGGGAGACTCACATTGTAAGCATTCTTAATGAG A/T TGGACCACATTGCTGGAGTCCTCAGACAGCTCCCCCACGGCTGACTTGGGGA
TGATCTCGGTGAGTTTCTGTTGGGCAAGAAGACCAGACATGGCACGGCTAGGACCTGTGCCACGGCATCTCCACGCACTGGGCTCACCCC
AGGGGCTTCTGCACCTGCAAAATGGCTGGGACGGTCCTCAACGCAGTTTTGCACTTGGTCCCCAGAGTGTGTGGTCAGTGATGTGTGGTA
AGAGGTTCTTGGGGGTAAAAAGCCCTGAGCTGCCCAGGGGCCACGCCTGGAATACCAGTACTCGGGAG-3'

[Top]

RS ID: 235326 Link_out

Alleles: C/T

Validation:

  • By cluster
  • By frequency
  • By submitter
  • By 2 hit 2 allele

Details:

Chromosome Reference Position
21 46311813

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000211 Link_out NP_000202 Link_out 3 V [Val] / V [Val]
coding-synonymous NM_001127491 Link_out NP_001120963 Link_out 3 V [Val] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAGGGAGTGCGGGCAGAGCACCTCCTTGCCGGCTGACTTTGGCTCTCGGATCTGAGCATCAGCTCTTCCTGCTCCTGGTCACCCCTT
CCTCCCCACGCTGAACCCCCCAGGACCCCTGCAGAGGCCAGGAGGTGAGGGTTGGGAGCTGGGCTGCCACCCTGGCCACCGAGGGTCCCC
ACCTGAGCCCAGCACTGCCCTGCAGATCACCTTCCAGGTGAAGGTCACGGCCACAGAGTGCATCCAGGAGCAGTCGTTTGTCATCCGGGC
GCTGGGCTTCACGGACATAGTGACCGTGCAGGT C/T CTTCCCCAGTGTGAGTGCCGGTGCCGGGACCAGAGCAGAGACCGCAGCCTCT
GCCATGGCAAGGGCTTCTTGGAGTGCGGCATCTGCAGGTGAGGCGGGCGCAGGTCCCTGTTGAACCATCCCCGAGCCCCACCCCACAGGG
CAGGTGTCGGCAGGTGAGGTGGGTGCAGGTGGCTCCATCCCTTCCCCCACCCCACGGAGCAGGCATCCTGGGGGCCCCCTTCTGCAGGAG
GTGGGGAGATTTGGGATTGGAACCCAGAACCCCTCGGCAAGCCCTCACCCGTGCTCCTGAGCCAGGGC-3'