SNPJam Report for CHRNB4

Showing coding SNPs for CHRNB4 (Gene ID: 1143)

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: 113537787 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
15 78921518

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000750 Link_out NP_000741 Link_out 1 T [Thr] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTCATCGTCATTCTTCATGTGCTGGGCGATGAAGCTGACACCTTCTAATGCCTCCTGCACATCCTGTCGGAACCTCCCAGAGGACCG
CAGCCAGAAATCCCTGGGGATAGCCACCGGGGTAGAGCCGGCTGGAGACTTGGAAGCTGCAGAGGCGGGGTTCACAAAGTACATGGAGTT
CCCATAGAAGTTGGAGGGGCTGG C/T GGAGGTGGCGGTGGCCTCGGGCTTGGTCACGCATGACTTGCTGGGCGGGAAGGCTCTGGCCG
GGCTGCTGTCGGGGCCAGGGCGCTTCATGAAGAGGAAGGTAGGCAGCTTGTGCAGGAAGCAGCGCTTGACCCAGGGTGCCATGGTGTGGG
TGCTGGGCGAGCGGTGGTGCACATTGAGCACACAGACGCTGGTGACGA-3'

[Top]

RS ID: 80249872 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
15 78922161

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000750 Link_out NP_000741 Link_out 3 F [Phe] / F [Phe]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TAAAGTCATCCATGCTGGCTGTGGGCGTCATGAGGACCATGTCTATCTCCGTGTGGTCATAGGTCCAGGAGCGGAACTTGAGGGTGC
AGTTCTGCTGGTC A/G AAGGGAAAGTACTTCACCTCAATCTTGCAGGCGCTCTTGTAGATGGCAGGGGGCAGCCACAGGACGCTGCCG
TTGGACCGGACTATCAAGTTGGTGTAGA-3'

[Top]

RS ID: 79914661 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
15 78921683

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000750 Link_out NP_000741 Link_out 1 R [Arg] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTGCTGTCGGGGCCAGGGCGCTTCATGAAGAGGAAGGTAGGCAGCTTGTGCAGGAAGCAGCGCTTGACCCAGGGTGCCATGGTGTGG
GTGCTGGGCGAGC G/T GTGGTGCACATTGAGCACACAGACGCTGGTGACGATGGAGAAGGTGACCAGCACCATGGTGAACATGAGGTA
CTTGCCGATGAGAGGCACATCGAGGGAG-3'

[Top]

RS ID: 79647370 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
15 78917587

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000750 Link_out NP_000741 Link_out 2 F [Phe] / Y [Tyr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGCAGCGTAGGGCCCCTCAGAAGCTGCATGGGTCTGGAAGAGGGGCGGTAGGAAGAGCCCCACAGTGCCCAGGACGCACACAAACAT
GAACACCCACAGG A/T ACAGCCGGTCCACCACCATAGCCACGTACTTCCAGTCCTCAACGACCTGCAGGCAGACAGAGGAGTTGGTCA
CAGGTGCCAAGTACTGGGGTCCCTCCTT-3'

[Top]

RS ID: 78931803 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
15 78917484

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000750 Link_out NP_000741 Link_out 3 Q [Gln] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACTTAGGGCCTCATCAGCCACAACCCAGAAAGAAGCAGCAAAGTGCCCACCCGGCCACTCACATCCTCTCACCCCACAACCCAGGGG
GCCCTCAGTCACG C/G TGGGCAGCGTAGGGCCCCTCAGAAGCTGCATGGGTCTGGAAGAGGGGCGGTAGGAAGAGCCCCACAGTGCCC
AGGACGCACACAAACATGAACACCCACA-3'

[Top]

RS ID: 78698827 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
15 78921546

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000750 Link_out NP_000741 Link_out 3 V [Val] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCGTGCCACCCACCTCCCTCGATGTGCCTCTCATCGGCAAGTACCTCATGTTCACCATGGTGCTGGTCACCTTCTCCATCGTCACCA
GCGTCTGTGTGCTCAATGTGCACCACCGCTCGCCCAGCACCCACACCATGGCACCCTGGGTCAAGCGCTGCTTCCTGCACAAGCTGCCTA
CCTTCCTCTTCATGAAGCGCCCTGGCCCCGACAGCAGCCCGGCCAGAGCCTTCCCGCCCAGCAAGTCATGCGT G/T ACCAAGCCCGAG
GCCACCGCCACCTCCACCAGCCCCTCCAACTTCTATGGGAACTCCATGTACTTTGTGAACCCCGCCTCTGCAGCTTCCAAGTCTCCAGCC
GGCTCTACCCCGGTGGCTATCCCCAGGGATTTCTGGCTGCGGTCCTCTGGGAGGTTCCGACAGGATGTGCAGGAGGCATTAGAAGGTGTC
AGCTTCATCGCCCAGCACATGAAGAATGACGATGAAGACCAGAGTGTAAGTTGCTAAC-3'

[Top]

RS ID: 78486549 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
15 78921507

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000750 Link_out NP_000741 Link_out 3 S [Ser] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCCAGAAATCCCTGGGGATAGCCACCGGGGTAGAGCCGGCTGGAGACTTGGAAGCTGCAGAGGCGGGGTTCACAAAGTACATGGAGT
TCCCATAGAAGTT A/G GAGGGGCTGGTGGAGGTGGCGGTGGCCTCGGGCTTGGTCACGCATGACTTGCTGGGCGGGAAGGCTCTGGCC
GGGCTGCTGTCGGGGCCAGGGCGCTTCA-3'

[Top]

RS ID: 78196041 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
15 78921443

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000750 Link_out NP_000741 Link_out 1 G [Gly] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGTGCACCACCGCTCGCCCAGCACCCACACCATGGCACCCTGGGTCAAGCGCTGCTTCCTGCACAAGCTGCCTACCTTCCTCTTCAT
GAAGCGCCCTGGCCCCGACAGCAGCCCGGCCAGAGCCTTCCCGCCCAGCAAGTCATGCGTGACCAAGCCCGAGGCCACCGCCACCTCCAC
CAGCCCCTCCAACTTCTATGGGAACTCCATGTACTTTGTGAACCCCGCCTCTGCAGCTTCCAAGTCTCCAGCC A/G GCTCTACCCCGG
TGGCTATCCCCAGGGATTTCTGGCTGCGGTCCTCTGGGAGGTTCCGACAGGATGTGCAGGAGGCATTAGAAGGTGTCAGCTTCATCGCCC
AGCACATGAAGAATGACGATGAAGACCAGAGTGTAAGTTGCTAACCAGCCCCTGCCCACCTGCCCAACAGAAAGGGCTCAGATAGTAGCA
CCAGCTTCCCACTTCCTGCAGTTAATTCATAGGAGACAAGGACTCTCAAACTCTGAAT-3'

[Top]

RS ID: 78159111 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
15 78921939

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000750 Link_out NP_000741 Link_out 3 T [Thr] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATGGTGAACATGAGGTACTTGCCGATGAGAGGCACATCGAGGGAGGTGGGTGGCACGATCTTGGAGATGAGCAGCAGGAAGAATGTC
AGTGCCAGCAGCACTGAGATGCACAGTGTCATCTTCTCGCCGCAGTCGGATGGCAGGTAGAAGACGAGGATGGCCAGCAAGGTGGTGAGC
ACGCAGGGGATGATGAGGTTGAT A/G GTGTAGAACAGAGGCTTGCGCTTGATGATGAAGTCGTAAGTCACGTCCACGTAGCTGGGGTC
TTGTGGGTTCACTGTCCTTCTCCCTGGGAGGGCCACTATGTCCCACTCACCACTGGGAGTAAAGTCATCCATGCTGGCTGTGGGCGTCAT
GAGGACCATGTCTATCTCCGTGTGGTCATAGGTCCAGGAGCGGAACTT-3'

[Top]

RS ID: 75495090 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
15 78927863

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000750 Link_out NP_000741 Link_out 2 N [Asn] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTGAGCTCTGTGTTGAGTGTATTTAATTTGAAGTCCTCAAGGAGAGACAGGCCTGCCAGCACCTTCGCTGCTTCAGCCAGCCCTAAG
GGCACCTGTGCTCCCTCTCAGCTCTCCCTGCTGCCACAGGCTGCAGTGGGGGTCAGGTGCACAAGGGCCCAGCAGGTCTGACTGTGTGTT
TTCTCAGGGAACTGCCGCGTGGCCAATGCGGAGGAAAAGCTGATGGACGACCTTCTGAACAAAACCCGTTACA A/G TAACCTGATCCG
CCCAGCCACCAGCTCCTCACAGCTCATCTCCATCAAGCTGCAGCTCTCCCTGGCCCAGCTTATCAGCGTGGTAGGTGCAGAGGGCAGCTG
TGGCTCAGGCTCAGGTGGAGAGGCCGCTCATGCCCAAGCCCCAGGCGATCATTGGTCAAAGGAATGAAACTACTATAGTTGACTTAGACT
TACCAGTACGTGTCAGGGAGGCTGCAGAAGGGTCCATGAAGTTCATAGGTGTCCAATA-3'

[Top]

RS ID: 75124790 Link_out

Alleles: G/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
15 78921475

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000750 Link_out NP_000741 Link_out 2 N [Asn] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGGGCAGGTGGGCAGGGGCTGGTTAGCAACTTACACTCTGGTCTTCATCGTCATTCTTCATGTGCTGGGCGATGAAGCTGACACCTT
CTAATGCCTCCTGCACATCCTGTCGGAACCTCCCAGAGGACCGCAGCCAGAAATCCCTGGGGATAGCCACCGGGGTAGAGCCGGCTGGAG
ACTTGGAAGCTGCAGAGGCGGGG G/T TCACAAAGTACATGGAGTTCCCATAGAAGTTGGAGGGGCTGGTGGAGGTGGCGGTGGCCTCG
GGCTTGGTCACGCATGACTTGCTGGGCGGGAAGGCTCTGGCCGGGCTGCTGTCGGGGCCAGGGCGCTTCATGAAGAGGAAGGTAGGCAGC
TTGTGCAGGAAGCAGCGCTTGACCCAGGGTGCCATGGTGTGGGTGCTG-3'

[Top]

RS ID: 72648898 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
15 78927870

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000750 Link_out NP_000741 Link_out 1 R [Arg] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGCCATTCACTGCTAGAGGGAAGAGGAGGAGGAAGAAGTATGGCATGGGAGGAGACAGCTGAGCTCTGTGTTGAGTGTATTTAATTT
GAAGTCCTCAAGGAGAGACAGGCCTGCCAGCACCTTCGCTGCTTCAGCCAGCCCTAAGGGCACCTGTGCTCCCTCTCAGCTCTCCCTGCT
GCCACAGGCTGCAGTGGGGGTCAGGTGCACAAGGGCCCAGCAGGTCTGACTGTGTGTTTTCTCAGGGAACTGCCGCGTGGCCAATGCGGA
GGAAAAGCTGATGGACGACCTTCTGAACAAAACC C/T GTTACAATAACCTGATCCGCCCAGCCACCAGCTCCTCACAGCTCATCTCCA
TCAAGCTGCAGCTCTCCCTGGCCCAGCTTATCAGCGTGGTAGGTGCAGAGGGCAGCTGTGGCTCAGGCTCAGGTGGAGAGGCCGCTCATG
CCCAAGCCCCAGGCGATCATTGGTCAAAGGAATGAAACTACTATAGTTGACTTAGACTTACCAGTACGTGTCAGGGAGGCTGCAGAAGGG
TCCATGAAGTTCATAGGTGTCCAATATTTAATGAAGTCATGATTTTGTTCTAACAAAGAAGAAATGAGGG-3'

[Top]

RS ID: 71653607 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
15 78921444

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000750 Link_out NP_000741 Link_out 3 A [Ala] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CACCATGGTGCTGGTCACCTTCTCCATCGTCACCAGCGTCTGTGTGCTCAATGTGCACCACCGCTCGCCCAGCACCCACACCATGGC
ACCCTGGGTCAAGCGCTGCTTCCTGCACAAGCTGCCTACCTTCCTCTTCATGAAGCGCCCTGGCCCCGACAGCAGCCCGGCCAGAGCCTT
CCCGCCCAGCAAGTCATGCGTGACCAAGCCCGAGGCCACCGCCACCTCCACCAGCCCCTCCAACTTCTATGGGAACTCCATGTACTTTGT
GAACCCCGCCTCTGCAGCTTCCAAGTCTCCAGC C/T GGCTCTACCCCGGTGGCTATCCCCAGGGATTTCTGGCTGCGGTCCTCTGGGA
GGTTCCGACAGGATGTGCAGGAGGCATTAGAAGGTGTCAGCTTCATCGCCCAGCACATGAAGAATGACGATGAAGACCAGAGTGTAAGTT
GCTAACCAGCCCCTGCCCACCTGCCCAACAGAAAGGGCTCAGATAGTAGCACCAGCTTCCCACTTCCTGCAGTTAATTCATAGGAGACAA
GGACTCTCAAACTCTGAATAAGGAATCCAAAATTGAAATGAGTTTGTGTTAAATATTATAGCTTCATG-3'

[Top]

RS ID: 71653605 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
15 78927921

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000750 Link_out NP_000741 Link_out 1 R [Arg] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGAGGTCAAGAAGAGACACCCAGCTTTTGTACCAGATATGTAGAGTGGGATGCCATTCACTGCTAGAGGGAAGAGGAGGAGGAAGAA
GTATGGCATGGGAGGAGACAGCTGAGCTCTGTGTTGAGTGTATTTAATTTGAAGTCCTCAAGGAGAGACAGGCCTGCCAGCACCTTCGCT
GCTTCAGCCAGCCCTAAGGGCACCTGTGCTCCCTCTCAGCTCTCCCTGCTGCCACAGGCTGCAGTGGGGGTCAGGTGCACAAGGGCCCAG
CAGGTCTGACTGTGTGTTTTCTCAGGGAACTGC C/T GCGTGGCCAATGCGGAGGAAAAGCTGATGGACGACCTTCTGAACAAAACCCG
TTACAATAACCTGATCCGCCCAGCCACCAGCTCCTCACAGCTCATCTCCATCAAGCTGCAGCTCTCCCTGGCCCAGCTTATCAGCGTGGT
AGGTGCAGAGGGCAGCTGTGGCTCAGGCTCAGGTGGAGAGGCCGCTCATGCCCAAGCCCCAGGCGATCATTGGTCAAAGGAATGAAACTA
CTATAGTTGACTTAGACTTACCAGTACGTGTCAGGGAGGCTGCAGAAGGGTCCATGAAGTTCATAGGT-3'

[Top]

RS ID: 71534215 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
15 78917631

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000750 Link_out NP_000741 Link_out 3 V [Val] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGCATGGGTCTGGAAGAGGGGCGGTAGGAAGAGCCCCACAGTGCCCAGGACGCACACAAACATGAACACCCACAGGAACAGCCGGTC
CACCACCATAGCCACGTACTTCCAGTCCTCAAC A/G ACCTGCAGGCAGACAGAGGAGTTGGTCACAGGTGCCAAGTACTGGGGTCCCT
CCTTTCCCCGAGTCAGGCCCTTACTCTCTGGCCAGGGACTCCACAGGCCACAGGCGTGGAACTGCATA-3'

[Top]

RS ID: 71534210 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
15 78921927

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000750 Link_out NP_000741 Link_out 3 I [Ile] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTGACCAGCACCATGGTGAACATGAGGTACTTGCCGATGAGAGGCACATCGAGGGAGGTGGGTGGCACGATCTTGGAGATGAGCAGC
AGGAAGAATGTCAGTGCCAGCAGCACTGAGATGCACAGTGTCATCTTCTCGCCGCAGTCGGATGGCAGGTAGAAGACGAGGATGGCCAGC
AAGGTGGTGAGCACGCAGGGGAT A/G ATGAGGTTGATGGTGTAGAACAGAGGCTTGCGCTTGATGATGAAGTCGTAAGTCACGTCCAC
GTAGCTGGGGTCTTGTGGGTTCACTGTCCTTCTCCCTGGGAGGGCCACTATGTCCCACTCACCACTGGGAGTAAAGTCATCCATGCTGGC
TGTGGGCGTCATGAGGACCATGTCTATCTCCGTGTGGTCATAGGTCCA-3'

[Top]

RS ID: 71534208 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
15 78921965

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000750 Link_out NP_000741 Link_out 1 I [Ile] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGCACAGTGTCATCTTCTCGCCGCAGTCGGATGGCAGGTAGAAGACGAGGATGGCCAGCAAGGTGGTGAGCACGCAGGGGATGATGA
GGTTGATGGTGTAGAACAGAGGCTTGCGCTTGA C/T GATGAAGTCGTAAGTCACGTCCACGTAGCTGGGGTCTTGTGGGTTCACTGTC
CTTCTCCCTGGGAGGGCCACTATGTCCCACTCACCACTGGGAGTAAAGTCATCCATGCTGGCTGTGGG-3'

[Top]

RS ID: 71528571 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
15 78922047

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000750 Link_out NP_000741 Link_out 3 E [Glu] / E [Glu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GATGAGGTTGATGGTGTAGAACAGAGGCTTGCGCTTGATGATGAAGTCGTAAGTCACGTCCACGTAGCTGGGGTCTTGTGGGTTCAC
TGTCCTTCTCCCTGGGAGGGCCACTATGTCCCA C/T TCACCACTGGGAGTAAAGTCATCCATGCTGGCTGTGGGCGTCATGAGGACCA
TGTCTATCTCCGTGTGGTCATAGGTCCAGGAGCGGAACTTGAGGGTGCAGTTCTGCTGGTCGAAGGGA-3'

[Top]

RS ID: 71528524 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
15 78921433

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000750 Link_out NP_000741 Link_out 2 P [Pro] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGGTCTTCATCGTCATTCTTCATGTGCTGGGCGATGAAGCTGACACCTTCTAATGCCTCCTGCACATCCTGTCGGAACCTCCCAGAG
GACCGCAGCCAGAAATCCCTGGGGATAGCCACC A/G GGGTAGAGCCGGCTGGAGACTTGGAAGCTGCAGAGGCGGGGTTCACAAAGTA
CATGGAGTTCCCATAGAAGTTGGAGGGGCTGGTGGAGGTGGCGGTGGCCTCGGGCTTGGTCACGCATG-3'

[Top]

RS ID: 71528520 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
15 78917613

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000750 Link_out NP_000741 Link_out 3 Y [Tyr] / Y [Tyr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTAGGGCCCCTCAGAAGCTGCATGGGTCTGGAAGAGGGGCGGTAGGAAGAGCCCCACAGTGCCCAGGACGCACACAAACATGAACAC
CCACAGGAACAGCCGGTCCACCACCATAGCCAC A/G TACTTCCAGTCCTCAACGACCTGCAGGCAGACAGAGGAGTTGGTCACAGGTG
CCAAGTACTGGGGTCCCTCCTTTCCCCGAGTCAGGCCCTTACTCTCTGGCCAGGGACTCCACAGGCCA-3'

[Top]

RS ID: 61737502 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
15 78917573

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000750 Link_out NP_000741 Link_out 1 M [Met] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTCACATATTTACTTAGGGCCTCATCAGCCACAACCCAGAAAGAAGCAGCAAAGTGCCCACCCGGCCACTCACATCCTCTCACCCCA
CAACCCAGGGGGCCCTCAGTCACGCTGGGCAGCGTAGGGCCCCTCAGAAGCTGCATGGGTCTGGAAGAGGGGCGGTAGGAAGAGCCCCAC
AGTGCCCAGGACGCACACAAACA C/T GAACACCCACAGGAACAGCCGGTCCACCACCATAGCCACGTACTTCCAGTCCTCAACGACCT
GCAGGCAGACAGAGGAGTTGGTCACAGGTGCCAAGTACTGGGGTCCCTCCTTTCCCCGAGTCAGGCCCTTACTCTCTGGCCAGGGACTCC
ACAGGCCACAGGCGTGGAACTGCATACTAGGGGGGCAAGTTCTGAGTC-3'

[Top]

RS ID: 61737499 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
15 78921523

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000750 Link_out NP_000741 Link_out 2 T [Thr] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CGTCATTCTTCATGTGCTGGGCGATGAAGCTGACACCTTCTAATGCCTCCTGCACATCCTGTCGGAACCTCCCAGAGGACCGCAGCC
AGAAATCCCTGGGGATAGCCACCGGGGTAGAGCCGGCTGGAGACTTGGAAGCTGCAGAGGCGGGGTTCACAAAGTACATGGAGTTCCCAT
AGAAGTTGGAGGGGCTGGTGGAG A/G TGGCGGTGGCCTCGGGCTTGGTCACGCATGACTTGCTGGGCGGGAAGGCTCTGGCCGGGCTG
CTGTCGGGGCCAGGGCGCTTCATGAAGAGGAAGGTAGGCAGCTTGTGCAGGAAGCAGCGCTTGACCCAGGGTGCCATGGTGTGGGTGCTG
GGCGAGCGGTGGTGCACATTGAGCACACAGACGCTGGTGACGATGGAG-3'

[Top]

RS ID: 56317523 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
15 78921343

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000750 Link_out NP_000741 Link_out 2 A [Ala] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCTCAGTGCTGCTGGCACTGACATTCTTCCTGCTGCTCATCTCCAAGATCGTGCCACCCACCTCCCTCGATGTGCCTCTCATCGGCA
AGTACCTCATGTTCACCATGGTGCTGGTCACCTTCTCCATCGTCACCAGCGTCTGTGTGCTCAATGTGCACCACCGCTCGCCCAGCACCC
ACACCATGGCACCCTGGGTCAAGCGCTGCTTCCTGCACAAGCTGCCTACCTTCCTCTTCATGAAGCGCCCTGGCCCCGACAGCAGCCCGG
CCAGAGCCTTCCCGCCCAGCAAGTCATGCGTGACCAAGCCCGAGGCCACCGCCACCTCCACCAGCCCCTCCAACTTCTATGGGAACTCCA
TGTACTTTGTGAACCCCGCCTCTGCAGCTTCCAAGTCTCCAGCCGGCTCTACCCCGGTGGCTATCCCCAGGGATTTCTGGCTGCGGTCCT
CTGGGAGGTTCCGACAGGATGTGCAGGAGGCATTAGAAGGTGTCAGCTTCATCG C/T CCAGCACATGAAGAATGACGATGAAGACCAG
AGTGTAAGTTGCTAACCAGCCCCTGCCCACCTGCCCAACAGAAAGGGCTCAGATAGTAGCACCAGCTTCCCACTTCCTGCAGTTAATTCA
TAGGAGACAAGGACTCTCAAACTCTGAATAAGGAATCCAAAATTGAAATGAGTTTGTGTTAAATATTATAGCTTCATGCATCCGGGGAGA
GGAAGGACGTGCCAGTGATTTAGTTTGTTTGTTTTAGGTGTCCCAGAAGCAAACGCCAAGATGGGGACTTGGGTGCAGGTGGTTTACTTG
AGATGTGATCCTGGGAAGCACAGTGAGGAAGGAGGGAAAGTGAGACAGGGAAAGGAGAATGAATGAGCAGGATACTGCCGTGGGTACCCG
GGACTCAGTACCCTTGCAGACCCGTGGGAACAAGCCTCAGGATCACCCCCCTGGAAGGAGGCTGAGGTATTTACCCACCAGCCCCCATTC
CCTAAAGGATGAGGGTAGCC-3'

[Top]

RS ID: 56258098 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
15 78921317

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000750 Link_out NP_000741 Link_out 1 D [Asp] / Y [Tyr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTCCTGCTGCTCATCTCCAAGATCGTGCCACCCACCTCCCTCGATGTGCCTCTCATCGGCAAGTACCTCATGTTCACCATGGTGCTG
GTCACCTTCTCCATCGTCACCAGCGTCTGTGTGCTCAATGTGCACCACCGCTCGCCCAGCACCCACACCATGGCACCCTGGGTCAAGCGC
TGCTTCCTGCACAAGCTGCCTACCTTCCTCTTCATGAAGCGCCCTGGCCCCGACAGCAGCCCGGCCAGAGCCTTCCCGCCCAGCAAGTCA
TGCGTGACCAAGCCCGAGGCCACCGCCACCTCCACCAGCCCCTCCAACTTCTATGGGAACTCCATGTACTTTGTGAACCCCGCCTCTGCA
GCTTCCAAGTCTCCAGCCGGCTCTACCCCGGTGGCTATCCCCAGGGATTTCTGGCTGCGGTCCTCTGGGAGGTTCCGACAGGATGTGCAG
GAGGCATTAGAAGGTGTCAGCTTCATCGCCCAGCACATGAAGAATGACGATGAA G/T ACCAGAGTGTAAGTTGCTAACCAGCCCCTGC
CCACCTGCCCAACAGAAAGGGCTCAGATAGTAGCACCAGCTTCCCACTTCCTGCAGTTAATTCATAGGAGACAAGGACTCTCAAACTCTG
AATAAGGAATCCAAAATTGAAATGAGTTTGTGTTAAATATTATAGCTTCATGCATCCGGGGAGAGGAAGGACGTGCCAGTGATTTAGTTT
GTTTGTTTTAGGTGTCCCAGAAGCAAACGCCAAGATGGGGACTTGGGTGCAGGTGGTTTACTTGAGATGTGATCCTGGGAAGCACAGTGA
GGAAGGAGGGAAAGTGAGACAGGGAAAGGAGAATGAATGAGCAGGATACTGCCGTGGGTACCCGGGACTCAGTACCCTTGCAGACCCGTG
GGAACAAGCCTCAGGATCACCCCCCTGGAAGGAGGCTGAGGTATTTACCCACCAGCCCCCATTCCCTAAAGGATGAGGGTAGCCCCAGGA
CTTTAACTCTCCTGTGCTTC-3'

[Top]

RS ID: 56235003 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
15 78921602

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000750 Link_out NP_000741 Link_out 1 R [Arg] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GACATGGTCCTCATGACGCCCACAGCCAGCATGGATGACTTTACTCCCAGTGGTGAGTGGGACATAGTGGCCCTCCCAGGGAGAAGG
ACAGTGAACCCACAAGACCCCAGCTACGTGGACGTGACTTACGACTTCATCATCAAGCGCAAGCCTCTGTTCTACACCATCAACCTCATC
ATCCCCTGCGTGCTCACCACCTTGCTGGCCATCCTCGTCTTCTACCTGCCATCCGACTGCGGCGAGAAGATGACACTGTGCATCTCAGTG
CTGCTGGCACTGACATTCTTCCTGCTGCTCATCTCCAAGATCGTGCCACCCACCTCCCTCGATGTGCCTCTCATCGGCAAGTACCTCATG
TTCACCATGGTGCTGGTCACCTTCTCCATCGTCACCAGCGTCTGTGTGCTCAATGTGCACCACCGCTCGCCCAGCACCCACACCATGGCA
CCCTGGGTCAAGCGCTGCTTCCTGCACAAGCTGCCTACCTTCCTCTTCATGAAG C/T GCCCTGGCCCCGACAGCAGCCCGGCCAGAGC
CTTCCCGCCCAGCAAGTCATGCGTGACCAAGCCCGAGGCCACCGCCACCTCCACCAGCCCCTCCAACTTCTATGGGAACTCCATGTACTT
TGTGAACCCCGCCTCTGCAGCTTCCAAGTCTCCAGCCGGCTCTACCCCGGTGGCTATCCCCAGGGATTTCTGGCTGCGGTCCTCTGGGAG
GTTCCGACAGGATGTGCAGGAGGCATTAGAAGGTGTCAGCTTCATCGCCCAGCACATGAAGAATGACGATGAAGACCAGAGTGTAAGTTG
CTAACCAGCCCCTGCCCACCTGCCCAACAGAAAGGGCTCAGATAGTAGCACCAGCTTCCCACTTCCTGCAGTTAATTCATAGGAGACAAG
GACTCTCAAACTCTGAATAAGGAATCCAAAATTGAAATGAGTTTGTGTTAAATATTATAGCTTCATGCATCCGGGGAGAGGAAGGACGTG
CCAGTGATTTAGTTTGTTTG-3'

[Top]

RS ID: 56218866 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
15 78922229

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000750 Link_out NP_000741 Link_out 1 S [Ser] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGGCGGGTGGATCACCTGAGATCAGGAGTTCGAGACCAGCCCGATCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAG
CCGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCCGAGACAGGAGAACTGCTTGAACCTGGGAGGCAGAGGTTGCAGTG
AGCCGAGATTGCACCATTGCACTCAGCCTGGGCAACAGAGCAAGAGTCTGTCTCAAAAAAAAAAAAAAGGGGGGTGCTTTGATGTTAGGG
CTCTCTCCACCACATAGTTGCTAACAAAAGCAGACCCCTCCTTTCAGTGAGGGCCTGGGGGATTGGAAGGGTGATTAGTGGGAAATAATC
CCAAAGGGCTCTTCAGTGAGTTCTGAGAACAGGCCAGGTTTTGTGTATGGGTTTCACGATGTTCTCCATGCCCTGACCCTGCCCAGCGCC
GACGGGACCTATGAGGTGTCTGTCTACACCAACTTGATAGTCCGGTCCAACGGC A/G GCGTCCTGTGGCTGCCCCCTGCCATCTACAA
GAGCGCCTGCAAGATTGAGGTGAAGTACTTTCCCTTCGACCAGCAGAACTGCACCCTCAAGTTCCGCTCCTGGACCTATGACCACACGGA
GATAGACATGGTCCTCATGACGCCCACAGCCAGCATGGATGACTTTACTCCCAGTGGTGAGTGGGACATAGTGGCCCTCCCAGGGAGAAG
GACAGTGAACCCACAAGACCCCAGCTACGTGGACGTGACTTACGACTTCATCATCAAGCGCAAGCCTCTGTTCTACACCATCAACCTCAT
CATCCCCTGCGTGCTCACCACCTTGCTGGCCATCCTCGTCTTCTACCTGCCATCCGACTGCGGCGAGAAGATGACACTGTGCATCTCAGT
GCTGCTGGCACTGACATTCTTCCTGCTGCTCATCTCCAAGATCGTGCCACCCACCTCCCTCGATGTGCCTCTCATCGGCAAGTACCTCAT
GTTCACCATGGTGCTGGTCA-3'

[Top]

RS ID: 56095004 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
15 78922240

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000750 Link_out NP_000741 Link_out 2 R [Arg] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTGGGAGGCCGAGGCGGGTGGATCACCTGAGATCAGGAGTTCGAGACCAGCCCGATCAACATGGAGAAACCCCGTCTCTACTAAAAA
TACAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCCGAGACAGGAGAACTGCTTGAACCTGGGAGGCAG
AGGTTGCAGTGAGCCGAGATTGCACCATTGCACTCAGCCTGGGCAACAGAGCAAGAGTCTGTCTCAAAAAAAAAAAAAAGGGGGGTGCTT
TGATGTTAGGGCTCTCTCCACCACATAGTTGCTAACAAAAGCAGACCCCTCCTTTCAGTGAGGGCCTGGGGGATTGGAAGGGTGATTAGT
GGGAAATAATCCCAAAGGGCTCTTCAGTGAGTTCTGAGAACAGGCCAGGTTTTGTGTATGGGTTTCACGATGTTCTCCATGCCCTGACCC
TGCCCAGCGCCGACGGGACCTATGAGGTGTCTGTCTACACCAACTTGATAGTCC A/G GTCCAACGGCAGCGTCCTGTGGCTGCCCCCT
GCCATCTACAAGAGCGCCTGCAAGATTGAGGTGAAGTACTTTCCCTTCGACCAGCAGAACTGCACCCTCAAGTTCCGCTCCTGGACCTAT
GACCACACGGAGATAGACATGGTCCTCATGACGCCCACAGCCAGCATGGATGACTTTACTCCCAGTGGTGAGTGGGACATAGTGGCCCTC
CCAGGGAGAAGGACAGTGAACCCACAAGACCCCAGCTACGTGGACGTGACTTACGACTTCATCATCAAGCGCAAGCCTCTGTTCTACACC
ATCAACCTCATCATCCCCTGCGTGCTCACCACCTTGCTGGCCATCCTCGTCTTCTACCTGCCATCCGACTGCGGCGAGAAGATGACACTG
TGCATCTCAGTGCTGCTGGCACTGACATTCTTCCTGCTGCTCATCTCCAAGATCGTGCCACCCACCTCCCTCGATGTGCCTCTCATCGGC
AAGTACCTCATGTTCACCAT-3'

[Top]

RS ID: 55919125 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
15 78922194

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000750 Link_out NP_000741 Link_out 3 S [Ser] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCAGCCCGATCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTA
CTTGGGAGGCCGAGACAGGAGAACTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCATTGCACTCAGCCTGGGCAA
CAGAGCAAGAGTCTGTCTCAAAAAAAAAAAAAAGGGGGGTGCTTTGATGTTAGGGCTCTCTCCACCACATAGTTGCTAACAAAAGCAGAC
CCCTCCTTTCAGTGAGGGCCTGGGGGATTGGAAGGGTGATTAGTGGGAAATAATCCCAAAGGGCTCTTCAGTGAGTTCTGAGAACAGGCC
AGGTTTTGTGTATGGGTTTCACGATGTTCTCCATGCCCTGACCCTGCCCAGCGCCGACGGGACCTATGAGGTGTCTGTCTACACCAACTT
GATAGTCCGGTCCAACGGCAGCGTCCTGTGGCTGCCCCCTGCCATCTACAAGAG C/T GCCTGCAAGATTGAGGTGAAGTACTTTCCCT
TCGACCAGCAGAACTGCACCCTCAAGTTCCGCTCCTGGACCTATGACCACACGGAGATAGACATGGTCCTCATGACGCCCACAGCCAGCA
TGGATGACTTTACTCCCAGTGGTGAGTGGGACATAGTGGCCCTCCCAGGGAGAAGGACAGTGAACCCACAAGACCCCAGCTACGTGGACG
TGACTTACGACTTCATCATCAAGCGCAAGCCTCTGTTCTACACCATCAACCTCATCATCCCCTGCGTGCTCACCACCTTGCTGGCCATCC
TCGTCTTCTACCTGCCATCCGACTGCGGCGAGAAGATGACACTGTGCATCTCAGTGCTGCTGGCACTGACATTCTTCCTGCTGCTCATCT
CCAAGATCGTGCCACCCACCTCCCTCGATGTGCCTCTCATCGGCAAGTACCTCATGTTCACCATGGTGCTGGTCACCTTCTCCATCGTCA
CCAGCGTCTGTGTGCTCAAT-3'

[Top]

RS ID: 55859769 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
15 78921807

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000750 Link_out NP_000741 Link_out 3 L [Leu] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCATGCCCTGACCCTGCCCAGCGCCGACGGGACCTATGAGGTGTCTGTCTACACCAACTTGATAGTCCGGTCCAACGGCAGCGTCCT
GTGGCTGCCCCCTGCCATCTACAAGAGCGCCTGCAAGATTGAGGTGAAGTACTTTCCCTTCGACCAGCAGAACTGCACCCTCAAGTTCCG
CTCCTGGACCTATGACCACACGGAGATAGACATGGTCCTCATGACGCCCACAGCCAGCATGGATGACTTTACTCCCAGTGGTGAGTGGGA
CATAGTGGCCCTCCCAGGGAGAAGGACAGTGAACCCACAAGACCCCAGCTACGTGGACGTGACTTACGACTTCATCATCAAGCGCAAGCC
TCTGTTCTACACCATCAACCTCATCATCCCCTGCGTGCTCACCACCTTGCTGGCCATCCTCGTCTTCTACCTGCCATCCGACTGCGGCGA
GAAGATGACACTGTGCATCTCAGTGCTGCTGGCACTGACATTCTTCCTGCTGCT C/T ATCTCCAAGATCGTGCCACCCACCTCCCTCG
ATGTGCCTCTCATCGGCAAGTACCTCATGTTCACCATGGTGCTGGTCACCTTCTCCATCGTCACCAGCGTCTGTGTGCTCAATGTGCACC
ACCGCTCGCCCAGCACCCACACCATGGCACCCTGGGTCAAGCGCTGCTTCCTGCACAAGCTGCCTACCTTCCTCTTCATGAAGCGCCCTG
GCCCCGACAGCAGCCCGGCCAGAGCCTTCCCGCCCAGCAAGTCATGCGTGACCAAGCCCGAGGCCACCGCCACCTCCACCAGCCCCTCCA
ACTTCTATGGGAACTCCATGTACTTTGTGAACCCCGCCTCTGCAGCTTCCAAGTCTCCAGCCGGCTCTACCCCGGTGGCTATCCCCAGGG
ATTTCTGGCTGCGGTCCTCTGGGAGGTTCCGACAGGATGTGCAGGAGGCATTAGAAGGTGTCAGCTTCATCGCCCAGCACATGAAGAATG
ACGATGAAGACCAGAGTGTA-3'

[Top]

RS ID: 55851389 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
15 78922233

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000750 Link_out NP_000741 Link_out 3 N [Asn] / N [Asn]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCCGAGGCGGGTGGATCACCTGAGATCAGGAGTTCGAGACCAGCCCGATCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAA
TTAGCCGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCCGAGACAGGAGAACTGCTTGAACCTGGGAGGCAGAGGTTGC
AGTGAGCCGAGATTGCACCATTGCACTCAGCCTGGGCAACAGAGCAAGAGTCTGTCTCAAAAAAAAAAAAAAGGGGGGTGCTTTGATGTT
AGGGCTCTCTCCACCACATAGTTGCTAACAAAAGCAGACCCCTCCTTTCAGTGAGGGCCTGGGGGATTGGAAGGGTGATTAGTGGGAAAT
AATCCCAAAGGGCTCTTCAGTGAGTTCTGAGAACAGGCCAGGTTTTGTGTATGGGTTTCACGATGTTCTCCATGCCCTGACCCTGCCCAG
CGCCGACGGGACCTATGAGGTGTCTGTCTACACCAACTTGATAGTCCGGTCCAA C/T GGCAGCGTCCTGTGGCTGCCCCCTGCCATCT
ACAAGAGCGCCTGCAAGATTGAGGTGAAGTACTTTCCCTTCGACCAGCAGAACTGCACCCTCAAGTTCCGCTCCTGGACCTATGACCACA
CGGAGATAGACATGGTCCTCATGACGCCCACAGCCAGCATGGATGACTTTACTCCCAGTGGTGAGTGGGACATAGTGGCCCTCCCAGGGA
GAAGGACAGTGAACCCACAAGACCCCAGCTACGTGGACGTGACTTACGACTTCATCATCAAGCGCAAGCCTCTGTTCTACACCATCAACC
TCATCATCCCCTGCGTGCTCACCACCTTGCTGGCCATCCTCGTCTTCTACCTGCCATCCGACTGCGGCGAGAAGATGACACTGTGCATCT
CAGTGCTGCTGGCACTGACATTCTTCCTGCTGCTCATCTCCAAGATCGTGCCACCCACCTCCCTCGATGTGCCTCTCATCGGCAAGTACC
TCATGTTCACCATGGTGCTG-3'

[Top]

RS ID: 35379044 Link_out

Alleles: -/T

Validation:

Not Completed

Details:

Chromosome Reference Position
15 78921627

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000750 Link_out NP_000741 Link_out 2 K [Lys] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTCTTCATGTGCTGGGCGATGAAGCTGACACCTTCTAATGCCTCCTGCACATCCTGTCGGAACCTCCCAGAGGACCGCAGCCAGAAA
TCCCTGGGGATAGCCACCGGGGTAGAGCCGGCTGGAGACTTGGAAGCTGCAGAGGCGGGGTTCACAAAGTACATGGAGTTCCCATAGAAG
TTGGAGGGGCTGGTGGAGGTGGCGGTGGCCTCGGGCTTGGTCACGCATGACTTGCTGGGCGGGAAGGCTCTGGCCGGGCTGCTGTCGGGG
CCAGGGCGCTTCATGAAGAGGAAGGTAGGCAGC -/T TTGTGCAGGAAGCAGCGCTTGACCCAGGGTGCCATGGTGTGGGTGCTGGGCG
AGCGGTGGTGCACATTGAGCACACAGACGCTGGTGACGATGGAGAAGGTGACCAGCACCATGGTGAACATGAGGTACTTGCCGATGAGAG
GCACATCGAGGGAGGTGGGTGGCACGATCTTGGAGATGAGCAGCAGGAAGAATGTCAGTGCCAGCAGCACTGAGATGCACAGTGTCATCT
TCTCGCCGCAGTCGGATGGCAGGTAGAAGACGAGGATGGCCAGCAAGGTGGTGAGCACGCAGGGGATG-3'

[Top]

RS ID: 12914008 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
15 78923505

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000750 Link_out NP_000741 Link_out 2 T [Thr] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCTGGTGTAATCACGACTCAGGAAAAGTCTCTTTGGCTTCCTCCACCTGCCTAAGATATTTACACACAGTAAGTCAGTGGTACCAAC
ACCAACACTGGCAAAGCAACAGAGGCTCAAAAGGATAGTATGGAACACAGAAAGGGTGCTGGGTTCAAGGTCAGGACACTGCTGTGGTCC
CAGCTCTGCTTCAGTGAATCAGACAAGGTCCCTCCCCTCCCTCAGCCTCCAACTCCCCATCTGTAACTGAGGGCTCTGGCTCTGCTCACC
TCTGTTTCTCTTCTAGCTTGATGGCCTGGAAGGCTGGGTAAAGCAGAGATGGGGCTCAGGGTTGGACTCAGGCCTGGATGACTCTTAGGG
CTGGGCCTGCTGCCCTGGCCTGGCTGTCACCAGGCCTCCACCAACCCTGCCACTCACTTGTTGTAAAGCACGATGTCAGGCAACCAGATG
CGCTTTGCAGGGATCCTCAGGATGTTCACACCCTCGTAGCGGGAGCTGTTCCAG A/G TCAGGCGGTAATCAGTCCATTCCTGGACAGA
CAGGCAAGGCCCTGTCACTTGCAGGTCCACTGCCACCAAAGGGCAGCCCTAAAGAAAAGATCTCTGGGGCTCAGGGCCCTTCAGGGCACT
TACCTGTTTCAGCCAGACATTGGTGGTCATGATCTGCTCTCGCTCATTCTGGGGAGGGAAACGGGGCTATCAGTTCACCAGGAAGGAGGA
GCCTCACAAATGGATTGCACTTTATTGTGCAAAAGGCTGTGAGCTCCAGGCCCACGTGACCAACTGCCACCCCAACATCTCTTGGATGGC
CCAAAGGCATGTCACACTCAGCATGTTTGACACAAAGCTCATGATCTTCCCCAGAACCTGGTCCTCCTTTGGCTTCATTGTCTCAGTGAA
TGGCACCCCTAGCCATCCAGTTCCACAAGCCAGAAGCGTGGACACTGTCTCTGACACTTTGCTCTCTGATCCATCAATAAGTCTTGTAAG
CTATATCTTCTAAAGCAACT-3'

[Top]

RS ID: 3743072 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
15 78921762

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000750 Link_out NP_000741 Link_out 3 I [Ile] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGTCTACACCAACTTGATAGTCCGGTCCAACGGCAGCGTCCTGTGGCTGCCCCCTGCCATCTACAAGAGCGCCTGCAAGATTGAGGT
GAAGTACTTTCCCTTCGACCAGCAGAACTGCACCCTCAAGTTCCGCTCCTGGACCTATGACCACACGGAGATAGACATGGTCCTCATGAC
GCCCACAGCCAGCATGGATGACTTTACTCCCAGTGGTGAGTGGGACATAGTGGCCCTCCCAGGGAGAAGGACAGTGAACCCACAAGACCC
CAGCTACGTGGACGTGACTTACGACTTCATCATCAAGCGCAAGCCTCTGTTCTACACCATCAACCTCATCATCCCCTGCGTGCTCACCAC
CTTGCTGGCCATCCTCGTCTTCTACCTGCCATCCGACTGCGGCGAGAAGATGACACTGTGCATCTCAGTGCTGCTGGCACTGACATTCTT
CCTGCTGCTCATCTCCAAGATCGTGCCACCCACCTCCCTCGATGTGCCTCTCAT C/T GGCAAGTACCTCATGTTCACCATGGTGCTGG
TCACCTTCTCCATCGTCACCAGCGTCTGTGTGCTCAATGTGCACCACCGCTCGCCCAGCACCCACACCATGGCACCCTGGGTCAAGCGCT
GCTTCCTGCACAAGCTGCCTACCTTCCTCTTCATGAAGCGCCCTGGCCCCGACAGCAGCCCGGCCAGAGCCTTCCCGCCCAGCAAGTCAT
GCGTGACCAAGCCCGAGGCCACCGCCACCTCCACCAGCCCCTCCAACTTCTATGGGAACTCCATGTACTTTGTGAACCCCGCCTCTGCAG
CTTCCAAGTCTCCAGCCGGCTCTACCCCGGTGGCTATCCCCAGGGATTTCTGGCTGCGGTCCTCTGGGAGGTTCCGACAGGATGTGCAGG
AGGCATTAGAAGGTGTCAGCTTCATCGCCCAGCACATGAAGAATGACGATGAAGACCAGAGTGTAAGTTGCTAACCAGCCCCTGCCCACC
TGCCCAACAGAAAGGGCTCA-3'