Showing coding SNPs for LRP2 (Gene ID: 4036)
Show all SNPs for this gene at dbSNP
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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:
7598640
Alleles:
A/G
Validation:
Details:
| Chromosome |
Reference Position |
| 2 |
170027095 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_004525  |
NP_004516  |
3 |
N [Asn] /
N [Asn]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-ATAATGCATAGAAAATACAGAGCAGAAGATACTGTGTTATGCTAAGGTTTACATATTACACATATACAAAAATAATTTTCCTCTAAA
AGCCTTATAAACACTAATTTGAAGCCCCTACACTGTCACAGTACAAAATTCTATGGTAAGCTTCTCAAATGACAGTTACCACAGTCCCGT
TCATCTGAGTTGTCCCCACAGTC A/G TTGTAATGGTCACAGATCCATCGCGAGGGAATGCACTGCTGATTGACACATCGAAACTCGCT
CTCTGTGCACTCCCGGGGAGCTGGAAAGGAAAGGCACCTGGCCATGAGTGTGCACCAGGAATCACATACAGGAGACATCTTGTGAGCTGA
CCATAGTGCCCTGGGTGCCCAGCACCCTCCTGTGTCCCAAGCCCCAGA-3'
[Top]
RS ID:
4667596
Alleles:
C/T
Validation:
Details:
| Chromosome |
Reference Position |
| 2 |
170070172 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_004525  |
NP_004516  |
2 |
R [Arg] /
K [Lys]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TTCAGATGCCAAATTAGCCCTTGGCACTTAACCATGTTTAAGACTTCATTATCATTTTTTAAATATTTCAGGTAACTTCAATTTGTA
TGCACGTGTATGTACGTGAAACTGTGTGTGGGTGTGTGCTTACAAATGTGAGTTATGTGTGAATATGCATTATACACCCATGAATGTATT
TCAGTGACAAATACTTACTGCGT C/T TGTGATAAACTTGAAGACCCCTCAGATTTGGAACATTATCTCTCAAGACTATTTTGTTGGCC
CCAGTGGCCTTATCAACTCTTTCAATGACCTCATACTGTTCATCAGTATAATAAAGGAAAGAATCATGGACTGCAATTCCCCAGGGGTGG
GAAAGCTGGTGTACCAGGATCATTCGATCTGTTCCATCCACGTTTCCT-3'
[Top]
RS ID:
4667591
Alleles:
G/T
Validation:
- By frequency
- By 2 hit 2 allele
- By cluster
Details:
| Chromosome |
Reference Position |
| 2 |
170003432 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_004525  |
NP_004516  |
1 |
I [Ile] /
L [Leu]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-AAGTTGTGTAAAAAGGACGAAAAGGATTTAATTATTGCTAATGAACTCATCTGCATTTAATTCAGCAGGTGGGAGTTGGTGGGGGTG
GAGGGGTGGTATCTAAAAAACTATATAAGCCATTTCCTAAGAGCAGGGCTCCTTCTTGAGAAAACAGGCAAAGACATTAGAAATATGTTA
ATTATTAATTTAATATATTACTTTCTAACTAATTTCTAACCTTCCTTTGCAATGACTCTCCTATCAGTCCCATCATATTTTATGGTTTCA
ATAACGTCCTCCTTGAAGTCACTCCAGTAGATTCGGTCATTGTTCAAATAATCGATAGAAAGGCCAGTTGGCCAACCAAGGTCCTCGAAA
ACCAGGATGTTGCGGTCCTCTCCATTCATCCAGGCAGACTCGA G/T TTTAGGTTCCTTTCCCCAGTCAGTCCAGAACATAAGCCTATA
ACAGAAGATTTCTTCACTGTAGCATCTCACCTGGTAAGACTTCTCCACTACAGCAGAGCACAGGGCATTACCTACAGGGAAACCAACTGT
TTATCTCAGGGACCTGGGTGCTCAGTGACACCAGTTTTATATTTTACAGAAGATGGGGAGCAAAAATAGGGGCGCAAGAGCACATATGAT
TTATCCTTCTTGAAAACTGCACCTCCTTAATAGAAATTGGCCGAAGGATGGATATTCAGACCCTTTAAAATGCATTATGAAAGCTGTATT
ATGAAAGCTGTTCACTCTTCAAGAAATATTATTGAAGGCCTACTGTGTAAGAGGCACTGTTCTGTGTTTGGGATCTATCAGAGAACAA-3
'
[Top]
RS ID:
3213760
Alleles:
A/G
Validation:
Details:
| Chromosome |
Reference Position |
| 2 |
170038761 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_004525  |
NP_004516  |
2 |
R [Arg] /
H [His]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-ACTGGTTGGATGCCCGCCTGGATGGCCTCTTTGTCTCTGACCTCAATGGTGGACACCGCC A/G CATGCTGGCCCAGCACTGTGTG
GATGCCAACAACACCTTCTGCTTTGATAATCCCAGAGG-3'
[Top]
RS ID:
2302694
Alleles:
C/T
Validation:
- By frequency
- By 2 hit 2 allele
- By cluster
Details:
| Chromosome |
Reference Position |
| 2 |
170088351 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_004525  |
NP_004516  |
3 |
S [Ser] /
S [Ser]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TTCCAGATTACTCAGTGGCTGTTTGTTCGTAATCCAGTTATAGACTGGATTGATCTGTAACCTTGAGTCATTCTCCTCTCTCGTGTC
TCTTATGAATTCTAAGTTGAAAGCCTGATGCTAGGGAAGTTGAAAGTGTGAGTAGTTCAGTGAAAACAAAACAAAAGAAAACAACAGAGG
TAACAACGTACTTAAGCCCCCCTGTACTGGGGCCTCTGGAAGGACACTAAGAGCATGACTCTGTTTTGATTTTAATGTGGAGGTTTTCCA
CTTACTGGTGCTTTCTTCTCTTTCTCATGCAGC C/T GTGAATCCATGTGCCTTTTCCCGCTGCAGCCATCTCTGCCTGCTTTCCTCAC
AGGGGCCTCATTTTTACTCCTGTGTTTGTCCTTCAGGATGGAGTCTGTCTCCTGATCTCCTGAATTGCTTGAGAGGTATAGTATGCTCCT
TATGTGAGCTCTGAAGATGGAGCTGGTCATAGTTTGTGCCAAGCAGTGGAAACTCTAAAACCAATTGCGACTGAACATGTGCTGTGTCCT
TTGATTCCTCAGGTGTCTGCAGAATGATGTGTGTTGTATGGGGTGATGTCACTGTGTGCCTTGGTTGT-3'
[Top]
RS ID:
2302691
Alleles:
A/C
Validation:
Details:
| Chromosome |
Reference Position |
| 2 |
170101384 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_004525  |
NP_004516  |
3 |
H [His] /
Q [Gln]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-AGATAATACCTGTTCATCTTCGGCGTTCACCTGTGGCCATGGGGAGTGCATTCCTGCACA A/C TGGCGCTGTGACAAACGCAACG
ACTGTGTGGATGGCAGTGATGAGCACAACTGCCCCACC-3'
[Top]
RS ID:
2241190
Alleles:
A/G
Validation:
- By cluster
- By frequency
- By 2 hit 2 allele
- By hap map
Details:
| Chromosome |
Reference Position |
| 2 |
170115588 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_004525  |
NP_004516  |
3 |
T [Thr] /
T [Thr]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-ATACCATTCCTGGTTCTGTTTGTCAGTATCATATCTACTCTTTGAGATCCAAAGTTTGAGGAATGGATAGATTCTAGGTTTGTCTCA
TGTTATTGCTCAGCAGCTTACAGAGTTTTTTTTTTTTTTTTTTTTTAAAGAATTCCACATGTGTTCCTGAAATATGCTCTAACTCTGACA
CAAAATTTCAGTGTGCATTAGTAGGAAAATTGATGCCTTACAAAATATACTTAGCTTAAAATATGTCCATATTTTAACTTATAGGAAGAG
AAATTCTCGCAGCTAACAGGGTGGAAAATGTTGAAAGTTTGGCTTTTGATTGGATTTCAAAGAATCTCTATTGGACAGACTCTCATTACA
AGAGTATCAGTGTCATGAGGCTAGCTGATAAAACGAGACGCAC A/G GTAGTTCAGTATTTAAATAACCCACGGTCGGTGGTAGTTCAT
CCTTTTGCCGGGTAAGTGTGTTCATGTTTTCCTAAGAGCTTGAAACTGTATGTCTTTTACAGTCATTGAAAAGTGATGCCCTAGGGATTT
AGGTAAGTTCAGCAAATATAAGATTGAACTGTATAAGTTGAAATCACCTTAAATTTTATTTCTTTTTTCCTCCAAAAAACTTTATTCTGG
GGGAGTAAAAAAAATTGTTTTTAAACCCAAAACATTTCTTCTAACTTTTGGCTTTCTCAGTCTTCACTGAAGAGTAGTTTTTTTCACAGT
TGCAGAGGACCAAACAATGTGATATAGATTCAGTAGAAAAGGAGTGAATAGGCAACAGAATTAACAGGAAAGACCCAAATTCTTTCCC-3
'
[Top]
RS ID:
2229268
Alleles:
C/T
Validation:
Details:
| Chromosome |
Reference Position |
| 2 |
170025083 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_004525  |
NP_004516  |
3 |
C [Cys] /
C [Cys]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GGAAACTGACTGGGCTCTGACAACTGCCCTTAAGACATAGTCCATTCAACTTTCAGACAGGTCAAGGCCACTATACATCTTGATGAA
TAAAGAAGAGCAGGCTATAATGGCAAGAGCCAAAGGAGAAATAGCAGGAAGCTTCCCCAAAGTAGTCAATTTGTATAATAATTTGAATAT
GTTTTTTTCCCCCATGGCAGCCACACGCTTTCCTGATGGTGCATACTGCCAGGCTACTATGTTCGAATGCAAAAACCATGTTTGTATCCC
GCCATATTGGAAATGTGATGGCGATGATGACTG C/T GGCGATGGTTCAGATGAAGAACTTCACCTGTGCTGTAAGAGGGAGAGAAACG
GAGTGAATGGGAGTGGTGTTGTCTGTCAAATCTCATTGTTTCTTACGTGTAGCATGTGAGCCTGGAGAGCAGTTGTACAATTGTTTAGGA
ATGGACACAGGATCAGCGTTGGTGTTATTTCACTGGGTCTTCCAGCTTCAGTTCTCTCTGTAACCTGAGAAAGTTGGGAAAACCTCCATG
TTTTTAAATGTATTATGGCCTTAGAAAACAATGTCTTTAAGGGAAATGTTGCTTGAAAACCTAGTATG-3'
[Top]
RS ID:
2229267
Alleles:
C/T
Validation:
- By cluster
- By frequency
- By submitter
- By hap map
Details:
| Chromosome |
Reference Position |
| 2 |
170092395 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_004525  |
NP_004516  |
3 |
C [Cys] /
W [Trp]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-ACCAGAGATGATTTATTTTAAGCAGGGCATAAACAGGATGTTGTATTATTTAAAATGACAGTTATTTTTAATATTTAAATACGTCCC
CTCCAATTGGTAACTCATTTCCTTTCCCAGTGAGCATCTACTGTTCTGGTCTGACTGGGGCCACCACCCTCGCATCGAGCGAGCCAGCAT
GGACGGCAGCATGCGCACTGTCATTGTCCAGGACAAGATCTTCTGGCCCTGCGGCTTAACTATTGACTACCCCAACAGACTGCTCTACTT
CATGGACTCCTATCTTGATTACATGGACTTTTG C/T GATTATAATGGACACCATCGGAGACAGGTGATAGCCAGTGATTTGGTAAGTT
GGTGGTGAGGAAAACCAAATTAAAACTACAGTCGTGGATAGGTAGAAATCAGACGAGTATCAGAAAAGCTAAGAAATTAATTTTTGTGTC
ATAGACATTGTCAGATCAATCCAGGAAATACCAGCAACAGTGAGAGGCAGTCTATCCCATATGACTAACTGGAAAATGAATATTTTCATT
CCAGTTCATGGTCAGCTTGTGCCATATCCAGGAAGGATTTTTATAGCTCGTGTGATTTAGTTGAGCTG-3'
[Top]
RS ID:
2229266
Alleles:
C/T
Validation:
- By frequency
- By hap map
- By cluster
Details:
| Chromosome |
Reference Position |
| 2 |
170150671 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_004525  |
NP_004516  |
3 |
D [Asp] /
D [Asp]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GTATTTACACACTGGAAATCGGCAAACACTACAAACCAGGGCCTTTTTGTTCCTGGATAACTGGTTCTTAAACAGTTACCAGCACAC
CACTGCTTAATAAGAATCCCTTTTTAAACTGGAGATGCTCTTCCTTTGAGATTAAATGGCTACAATGGAGTTAACTTCTCTCTTTTCTTT
CCCTTCTTAACTTTCTGTTGCAGCTGAGATATGCTTGCACAATGAGTTTTCATGTGGCAATGGAGAGTGTATCCCTCGTGCTTATGTCTG
TGACCATGACAATGATTGCCAAGACGGCAGTGA C/T GAACATGCTTGCAGTACGGTGATTTCTTTATGCTGGGTCATGTTGTTGGGAG
TGTTTTGTTTTGTTTCGGTTTTGTTTTGTTTTATCCCCCCGCTCCCCCACCAATGTACCTCTTTTTTCAAGGAGAAGAGTCACTACGTTT
GATGGCAGATGGAATCAGACGGTCACTAGGGGGTCTTGGCACAAGCCTTTGTGGTGTTGCTCGACCTGGGCTCCTTTATTTTCCAAGGAT
CTGTGTAGATGTAAAGGGCTGGTGATGGACAGTTTGCCTTCTTTCCTTAGGCTCCAGGGGTACAGGAT-3'
[Top]
RS ID:
2229265
Alleles:
A/G
Validation:
Details:
| Chromosome |
Reference Position |
| 2 |
170032989 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_004525  |
NP_004516  |
3 |
Q [Gln] /
Q [Gln]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-AAGCACAGGGTTGTTGCTTGTATAACTCTATCATCTGTTTTATTTAGGAACTTTTGGGAAAATCATAAATCTAGGATAGTTTTTTTT
TTACTAAGAGGTGATGAGTTTAAAGTCAAGATGTGTAATCAGCTAATCTGTGCTTGATACTCTCTTTCAGCAAATGAACACATATTTTCT
TCCTTTTCCACTAGTGAGCAATCCCTGTGGTACCAACAATGGTGGCTGTTCTCATCTCTGCCTCATCAAGCCAGGAGGAAAAGGGTTCAC
TTGCGAGTGTCCAGATGACTTCCGCACCCTTCA A/G CTGAGTGGCAGCACCTACTGCATGCCCATGTGCTCCAGCACCCAGTTCCTGT
GCGCTAACAATGAAAAGTAAGGCTCTCTTTCCCCTCTCCTCAGTGCCTCTCTAGCCCGTGGACAGACATTGACCTTCAAGGCTCCAAGGG
ATGGGAGTTTTCTAGTGAGACAAGATTTTGGTTAATTAACTTGGTTCATGTGGAACACAGCAAGACTCTCAGCCTCCAACTTCAGATAAT
ATTTTCCATGAATAGAAGGAGCTTGCTAACCAAACTGTTATGCCTATATATGCAAACTTTCATAGAAA-3'
[Top]
RS ID:
2229263
Alleles:
A/G
Validation:
Details:
| Chromosome |
Reference Position |
| 2 |
170175334 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_004525  |
NP_004516  |
2 |
N [Asn] /
S [Ser]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TTTATTCTCTGTGTTTTTAAGTTGCTTTGGTTCATGAGTTTGTTGTGATGCTGTTGCTGAGCTTATTTGACAGTGAACTCTGACTGG
CGTCCACAGACTCTAGTATAAGGGTTGTTTACTATTTGCCTTCAAATAAATTGAGCAGGAGTTTACATGATACACTCTTCTGGAACAAGC
ATTGCTTGCTAGTATAATGGGGAGGATGATTGCCATAATGAGTCCTCTTTTGGTTTGTTTTAGCTGTTGTGACCTGCCAGCAGGGCTATT
TCAAGTGCCAGAGTGAGGGACAATGCATCCCCA A/G CTCCTGGGTGTGTGACCAAGATCAAGACTGTGATGATGGCTCAGATGAACGT
CAAGATTGCTGTAAGTGTTTGGAGAGGAATCTTGCTTTGGCTTTGTGGACACCTAAAACCCAACCTGTCGCAAAGAAGTTACACACAATG
GGATGATTCTTTATAAATGTGGAGCAGGGCCTTAAATCATAAGGGAACCTATGCCAGCAATCTCATTCAGGGGTTGGATGATATTGAAAG
TACGGATGTACTGAAGAATTATGAATATACCCCAGCAATTTGGAAGTGAGATAGGTTCCCAATCTTTA-3'
[Top]
RS ID:
2228171
Alleles:
A/G
Validation:
- By frequency
- By hap map
- By cluster
Details:
| Chromosome |
Reference Position |
| 2 |
170053505 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_004525  |
NP_004516  |
1 |
A [Ala] /
T [Thr]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TAATTATCATTGCAATGGAATTTATTTAATCTTACATTATAGTAGAAAAAATAAAACCAAGACTTATAATTTGTGATTTCATTTATC
ACAAAGATAGTTCTTTGGTATTTCTAACAAATACAATTTTTTTTTTTTGATTTCTGGAATCTAGAAAAACAAATTGGGGAATTGGGGCAG
GATTGACTTCCTTCTGTCTCCCATACTTCTTCCTCCCCACAGAAAGCTTACACAAGCATCCATTTTCCAGGCTCAGTCTTCCTTTTTTGG
TAACTATTATCTAGCTCAGAGATAGAGGCAGATTGTTAAGACTGATGGGAACATGCTTGTGTTTTGCTCATGGGTTTTATCTTCTTTCCC
TCCTGCAGCCACTCACACGTGCAGCAGCAGTGAGTTCCAATGC A/G CATCTGGGCGCTGTATTCCTCAACATTGGTATTGTGATCAAG
AAACAGATTGTTTTGATGCCTCTGATGAACCTGCCTCTTGTGGTAAGAGAGTAAGCAAGCATGAAAAACATCACGATGCAGCTAGACAAC
TTCAGTCTCTTCCAACTGCTTCAAATACAGACCAGGGTCATGGCTGCTGAATGCTTGGACTTCCTGTCCCAGCTTTCATCTGGAATGCTG
ACACCGCTCAGCGGATATTCATTAAGACCTGTTAGTGGAGAGCACTGTGTGGGGAGCTGATCAGGATACGGAAGCTGCTGATTGATGCTG
ATAAAATGAAATTATATTGGTGATGCACCTAATACAGTGCTTAGCTGGTAGAACTTAATTTTAGTTGGCTCTCAATTGAAGTTTCTGA-3
'
[Top]
RS ID:
2228170
Alleles:
A/G
Validation:
- By frequency
- By hap map
- By cluster
Details:
| Chromosome |
Reference Position |
| 2 |
170063420 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_004525  |
NP_004516  |
3 |
V [Val] /
V [Val]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GATAGAAGTTCTGCGGATCAATACTACTTACCGCCGTGTTCTTCTTAAAGTCACAGTGGACATGCCTAGGCATATTGTTGTAGATCC
CAAGAACAGATACCTCTTCTGGGCTGACTATGGGCAGAGACCAAAGATTGAGCGTTCTTTCCTTGACTGTACCAATCGAACAGTGCTTGT
GTCAGAGGGCATTGTCACACCACGGGGCTTGGCAGTGGACCGAAGTGATGGCTACGTTTATTGGGTTGATGATTCTTTAGATATAATTGC
AAGGATTCGTATCAATGGAGAGAACTCTGAAGT A/G ATTCGTTATGGCAGTCGTTACCCAACTCCTTATGGCATCACTGTTTTTGAAA
ATTCTATCATATGGGTAGATAGGAATTTGAAAAAGATCTTCCAAGCCAGCAAGGAACCAGAGAACACAGAGCCACCCACAGTGATAAGAG
ACAATATCAACTGGCTAAGAGATGTGACCATCTTTGACAAGCAAGTCCAGCCCCGGTCACCAGCAGAGGTCAACAACAACCCTTGCTTGG
AAAACAATGGTGGGTGCTCTCATCTCTGCTTTGCTCTGCCTGGATTGCACACCCCAAAATGTGACTGT-3'
[Top]
RS ID:
2228169
Alleles:
A/G
Validation:
Details:
| Chromosome |
Reference Position |
| 2 |
170068491 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_004525  |
NP_004516  |
3 |
P [Pro] /
P [Pro]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-CAATTAAAGAAATTTGAGATGGGGTGGCGAGTAGCTAGGATCAAAAGTTACAAATGGATTTTGTTTTCATTTAGATGCCGCCGAATC
CTCAAATGGCTGTAGCAACAACATGAATGCCTGTCAGCAGATTTGCCTGCCTGTACCAGGAGGATTGTTTTCCTGCGCCTGTGCCACTGG
ATTTAAACTCAATCCTGATAATCGGTCCTGCTCTCCATATAACTCTTTCATTGTTGTTTCAATGCTGTCTGCAATCAGAGGCTTTAGCTT
GGAATTGTCAGATCATTCAGAAACCATGGTGCC A/G GTGGCAGGCCAAGGTATGCCAACTCCAATATAAGTAAGATTTGACTTCATCT
GGCACCAGGTTGAAATCCCTGGTGCCATGAAAACATTTCTTCATGTGTGGATTCAGTGCATAATGAAGCTTTCCTTTCCCTTTAAATCAA
CTGGCACAGCCTAAAGTGTTTTTCAAACTTTAGTGTGTCTCAGAATCACCTGGAGGGCTCACGCCAACACAGCTCCAGACCTCGTCCCCA
GATTTTTCTGATTTTGTAGTCTAGGGTAGGGCCAGAGAATCTGCACTCCTAATAAGCTCCCAGGGCAT-3'
[Top]
RS ID:
2228168
Alleles:
C/T
Validation:
- By frequency
- By hap map
- By cluster
Details:
| Chromosome |
Reference Position |
| 2 |
170068564 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_004525  |
NP_004516  |
2 |
I [Ile] /
T [Thr]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-ATGTTGTTTTTAGATTGCTAACTCAGCTACTATATGTTGGTTATTAATTTTTAGAATAAATTATTTGGTGACCCAATTAAAGAAATT
TGAGATGGGGTGGCGAGTAGCTAGGATCAAAAGTTACAAATGGATTTTGTTTTCATTTAGATGCCGCCGAATCCTCAAATGGCTGTAGCA
ACAACATGAATGCCTGTCAGCAGATTTGCCTGCCTGTACCAGGAGGATTGTTTTCCTGCGCCTGTGCCACTGGATTTAAACTCAATCCTG
ATAATCGGTCCTGCTCTCCATATAACTCTTTCA C/T TGTTGTTTCAATGCTGTCTGCAATCAGAGGCTTTAGCTTGGAATTGTCAGAT
CATTCAGAAACCATGGTGCCGGTGGCAGGCCAAGGTATGCCAACTCCAATATAAGTAAGATTTGACTTCATCTGGCACCAGGTTGAAATC
CCTGGTGCCATGAAAACATTTCTTCATGTGTGGATTCAGTGCATAATGAAGCTTTCCTTTCCCTTTAAATCAACTGGCACAGCCTAAAGT
GTTTTTCAAACTTTAGTGTGTCTCAGAATCACCTGGAGGGCTCACGCCAACACAGCTCCAGACCTCGT-3'
[Top]
RS ID:
2075252
Alleles:
A/G
Validation:
- By cluster
- By frequency
- By submitter
- By 2 hit 2 allele
Details:
| Chromosome |
Reference Position |
| 2 |
170010985 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_004525  |
NP_004516  |
1 |
K [Lys] /
E [Glu]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-ATTTTGTAACCCAGTTGGAGAGTCAGCTTTATTGATTAACAGAGATAGTCAGATTCCTATAAAAACTCATGTTCTTTAAAAAGGGGA
CAGGTACATACTGTGCATTTTATATCCTACTTTATATAGGAAAGTATAATTCAAACAGATAAAGTAGCCCTTTGTTTGTTTACAGGTAGC
TCTCCTTTGTTGCTACTGCCTGACAATGTCCGAATTCGAAAATATAATCTCTCATCTGAGAGGTTCTCAGAGTATCTTCAAGATGAGGAA
TATATCCAAGCTGTTGATTATGATTGGGATCCC A/G AGGACATAGGCCTCAGTGAGTATAAACTTTGGCATCTTTCATTGATATTAAG
TGACTTTATAGAATTTTAAGGTGTTGACTTTTAAGGAATTTATTGTTTAATGAGTGAATTTTGTTGCATTAGTGGAGGAGGAAACTCTTC
CAATCCAGCATGCTCCTGATGCCTTAGCGTGGCCTTGAATCCCAGCCAAGCTTTCCTGATTTCTTTCTAAAACTCCTCCGATCACTGGGG
TTTATCCTTTCTGGACCATCTCACATCTTCTTGTATTTTGAAATTTCCTTGTCCTTGATACTGCAGAT-3'
[Top]
RS ID:
2075249
Alleles:
A/C
Validation:
- By cluster
- By frequency
- By submitter
- By 2 hit 2 allele
Details:
| Chromosome |
Reference Position |
| 2 |
170103351 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_004525  |
NP_004516  |
3 |
T [Thr] /
T [Thr]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GTTGTATTTGGCGGGTTGATTTCCAAGAGGAAGCTACTTTTTAGTATTGGGTCTGAAAAATGTTTTGTCCTGTTTGTTTTCCTTCAC
AAATCAAACCCGTGACCTACCTAGTGAAAATGTACATGACTGACTCCCTCGGGGCTTTGCTTTTGCAGGTTCTAACGCCTGTAATCAACC
CACGCATCCTAACGGTGACTGCAGCCACTTCTGCTTCCCGGTGCCAAATTTCCAGCGAGTGTGTGGGTGCCCTTATGGAATGAGGCTGGC
TTCCAATCACTTGACATGCGAGGGGGACCCAAC A/C AATGAACCACCCACAGAGCAGTGTGGCTTATTTTCCTTCCCCTGTAAAAATG
GCAGATGTGTGCCCAATTACTATCTCTGTGATGGAGTCGATGATTGTCATGATAACAGTGATGAGCAACTATGTGGCACACTTAGTAAGT
AGCTATGCACTGGCGATATTTCCTGGGATGAATAGAGTAGAGGTGGGCTTTAAAGAAAATAAATAAAAGCTTGGGCTATTTATATGGGAA
AAATATCTTTTAGAATTTCAGATTCTTAACATGCACTTTGAAGGCTTTTAGGAAGCTAAGCAAGAAAT-3'
[Top]
RS ID:
1559014
Alleles:
C/G
Validation:
- By frequency
- By 2 hit 2 allele
- By cluster
Details:
| Chromosome |
Reference Position |
| 2 |
170218847 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_004525  |
NP_004516  |
3 |
A [Ala] /
A [Ala]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-CGGGAGGGGCGCTGCAGGTGGAAAGCTGCGCTCTGAGCAGAGCCCGGGACCGCGCCGCCCAGCAGAGAACTCCGCTAGGGAGGGCAG
GCTGCAAACGGCGGAGAACCTCGTTCTCCCGCAAAGTGCTTTCCAGGAGCATCGGACCAACGCCCGTGGGAACAAAGACAGGGTCTCCGT
GGGGTGCGCTGTCACCGAAACTGGCGGGGCTGCTTTCTCAAGTTTGCTGCCGCTCAGTTCCTGGCGAGCGAAGAGGGGCGCTCCCGCTCC
GGCTTCGCGAAGCAACCTGAGCGCCCCACCGGGAGCAGCTCCCGCGCCGCCGCCCGGCCCTAGCCCCTGCCCGGACGCTCTCCCCTCCGG
CCTCCCGCGGACCCGACCCTGCCACAGCCGGGGAAGTGGGGGCTCCACGAGAGGCTCTGGCTGGGCTCTTACCTTGGCCACTGGCCGG C
/G GCTAGGCAGGCGACGAGAGCCAGGAGCAGCGTGCACGCCACTGCTGCCGGCCCGCGATCCATCTCCGCGACGGTCCCCGGCCTCGCC
GTTCCTTCCCCGGGAGGTGGGCGCGCGTAGCACACCGCACCGGCAGCGCCTCTGCTAGCGAACGCTCCTTTAGGTCTGCACCTCCGCCAG
CTCCTAGTGGCCAAAAGCCTGCCCCCACGCCCGAGGCATCCCGTTTTCTACCCGCGCCAGTCCCCACCCTCCAGACAGTGCATAAAGCCC
TTTAGACCCGACCGCCCCGGAACAAGCATGCGGGAATCCAGCGGGCAGGCCCCCTGCCGCCCGGCCCGCCCCCTGCACTTTGCAGCGCGG
GGAGGAGTGGGCACTCGAACACACGCGTGCTCACACAGGGACACTCACACAGGCGTGTGCACACTCACACACGCACTCATACAGGCGCAT
GCACTCCTAAGTGTCACACCAACTGACACAGATTCACTCATACACGCCAGTCACACACGCGCGCACATTCCACAGTCACACTTCAACGCC
GACATACACAGTCCCCTTTACGCGTGCATACAAGAGCACACTCCTGTGCGCACACTCTCACAGGCACACTCACACGTGCACACGCGCTGC
CCTCGCCTCTCCGCAGGGTTTGCCCCGCACAGAAGCCGGCGAGGCGGCTCACGGGGAAATCTGCACGGACGCAGTTTTACTAAATGAGCa
atggaaagaaatggacgaggaggaaagtcaagaatagagaagagaaagaaaaaataagaaatggaaaaggaaagcacaaccagacaagta
aaaatgaaggaaagagaaagaaagggaaagaggcgggggtagggaagggaaggAGTAAAGAGCCTGCTGGATGGAGATCTGTGACCTTCA
TTCCTGGCCTGATCTCTCTAGGCTCCTTCGGATATCTTGGTTTCCCCTGATAGGATACAGGCTGCTGAGATGGGGTGCTTTGTGTTTTTA
CAAATTAGAGAGGGAGGTGGATCTTTGTTGGGGAGGTT-3'
[Top]
RS ID:
990626
Alleles:
C/T
Validation:
- By cluster
- By frequency
- By submitter
- By 2 hit 2 allele
- By hap map
Details:
| Chromosome |
Reference Position |
| 2 |
169997051 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_004525  |
NP_004516  |
3 |
I [Ile] /
I [Ile]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TATAAACTGCCCCCTTTCTTTCCACTAAATGTATGTTACTCTCCAAGACCTTAAGGAAACTCACTGGACTTAGGGGGAAGGTAAGCT
TTGACAGGGAGACTAATTGGCTGGCCTGCCCCTCCTCCCACCCCTAACCTGGGCCGGTTTGCATGGTGTGGGCACTCTGCTGAGTACAGC
TGACTAACACCTGCATGGCTTTCCCTTCCTGCAGCCAT C/T GAACTGCCTATCAACCTGCCCCCCCCATGCAGGTGCATGCACGGAGG
AAATTGCTATTTTGATGAGACTGACCTCCCCAAATGCAAGTAAGTCTGAATGTTGAGGTCCCAGCTATAGGCCTTGCCTCTTCTGGGGAA
ATTTGAGACCTTAAAGTAGCCAGGAAAACAAATACAGGAACCTCACCAGTTCACTAATTCTTACATTTTAACCAGCTTGCCTTCCCTTGA
GGGAGTCTACAGAGAACTGAGGCAGTGCTTCTTTAACTAGAATGTGCATAAGAATCCCGTGGAGATCTGGTTCAAGTGCCCATTCTCACG
CACAgagattctgcatttctaacaagctctaggtaggccacagggtcttggaccacactttggggagcaAGGAGTTAGAAAATTGGCAGC
AGCATTTTCCTACTCACCTGNTATTGTTGATTACAACAGGGCTGTGG-3'
[Top]
RS ID:
831043
Alleles:
C/T
Validation:
- By cluster
- By frequency
- By submitter
- By 2 hit 2 allele
Details:
| Chromosome |
Reference Position |
| 2 |
170103336 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_004525  |
NP_004516  |
3 |
T [Thr] /
T [Thr]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-AACATTATGAATGAAATTTCTTGCTTAGCTTCCTAAAAGCCTTCAAAGTGCATGTTAAGAATCTGAAATTCTAAAAGATATTTTTCC
CATATAAATAGCCCAAGCTTTTATTTATTTTCTTTAAAGCCCACCTCTACTCTATTCATCCCAGGAAATATCGCCAGTGCATAGCTACTT
ACTAAGTGTGCCACATAGTTGCTCATCACTGTTATCATGACAATCATCGACTCCATCACAGAGATAGTAATTGGGCACACATCTGCCATT
TTTACAGGGGAAGGAAAATAAGCCACACTGCTC C/T GTGGGTGGTTCATTGGTTGGGTCCCCCTCGCATGTCAAGTGATTGGAAGCCA
GCCTCATTCCATAAGGGCACCCACACACTCGCTGGAAATTTGGCACCGGGAAGCAGAAGTGGCTGCAGTCACCGTTAGGATGCGTGGGTT
GATTACAGGCGTTAGAACCTGCAAAAGCAAAGCCCCGAGGGAGTCAGTCATGTACATTTTCACTAGGTAGGTCACGGGTTTGATTTGTGA
AGGAAAACAAACAGGACAAAACATTTTTCAGACCCAATACTAAAAAGTAGCTTCCTCTTGGAAATCAA-3'
[Top]
RS ID:
831042
Alleles:
C/T
Validation:
- By frequency
- By 2 hit 2 allele
- By cluster
Details:
| Chromosome |
Reference Position |
| 2 |
170099473 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_004525  |
NP_004516  |
3 |
A [Ala] /
A [Ala]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TCTTGCCTTCTATAATCTCCATAGATAACATCTTAGCAGATATTCAACACATAATAGCACAAAGAATGAATTCATCAGAGTCAATAC
TAAACACAGCTCCATACCATTTCTACACCATGATATGACTTCTCTACTGAAACTTAAAAGAAACCAGTAAAATATCTTTATATGGAGTAG
AGCCTCAAAAGTTTAAACCTACTAAAGTGGGAAGTCCTAAGAAAAACTAAAAGTGAAAACAAAAATATCTAAGAAATATTTAGCCCATCT
AAGAGACTATTTGAAGTGTCCATTTATACAACCACTTGATTTGTTAATTACACATTATATGGCAATGTCTACTCAATTTTACTGTATGTT
CAATACCACATTCCTTTGAGGATACTTTCCCCCAGTTTGTCTGAGTTAGGGAAAATGTGTGGCAATATCAATATCAATACTGGCAAAAAT
GAAATGACCCCTTTGTCTGAAACATTCTGGGTATGTGTTACTTACGACAGCC C/T GCTTCATCCGAGTTGTCACTGCAATCAAAAACA
CCATCACAACGATTTGTGACGCCAATACATTTATCCCCACTGGCACACTTGAATTGAGAAGCAGTACAGTTTAATACTAAGAATGAAAGA
GAAAAGCATTAGAAATTAGCTCAGGGCTAAAATGACTAAACACTGAGATTTTTCTTTTTtgttgttatactttaagttctggagtacata
tgcagaacatgcaggtttgttacataggtatacacgtgccatggtggtttgctgcacccatcaacccatcatctacattaggtatttctc
ctaatgccatcccttctctagctccccaccccccaacaggccccggtgtgtgatgttcccctccctgtg-3'
[Top]
RS ID:
830994
Alleles:
A/G
Validation:
- By cluster
- By frequency
- By 2 hit 2 allele
- By hap map
Details:
| Chromosome |
Reference Position |
| 2 |
170129528 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_004525  |
NP_004516  |
3 |
V [Val] /
V [Val]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-AGAAATTTACATTTTCAAACATAGTTCTGTGTATAGTAGAAGTGGTGCCTACCAAGGAAGATGCCCTGTGGGCTACAGAAAGCTTAT
TTGCAGTCAAGAAGTTAGACAGGGAGCTGGTCCAGTTCAAGAGTAGCAGTTAGTCTAGTTAGAGGTTTGGACACACATACACCTGTGTCA
CCTGCCAACAACGTCCAAAACAGACTTCTTACCAATGCAGTGGCGCTCATCTGTATCCAGTTGGAAGCCGAATGTGCACTTGCAACGGAA
ACCCAAACCATCATTATCTGTTCTGTGGCTGAG A/G ACACAGACCTGCTCACAGCCCCCATTGTTATCTTTACACGGATTGGTAGCTG
GAAGGAAAAATGCACAGGGTTAAATTGCAATTAGAAATGTGTAATTATCCAAGACGTGAAGCCACTTCTAGCCCTTTTCACCTATAGGTG
AAATAGAGTAATGGATTAGCAACGTGTTGAAAACATTACTACTGGTTACTACTGGATACATCCACATCTGGCTACACTAACCCTCCCAAT
TTCACTGCTGCTCTCCCATCCACTCTCCAACAGACGGTGGCAAAAAAAAAGAAAGGACTCCTACAACT-3'