[Top]
RS ID:
80153317
Alleles:
A/G
Validation:
Details:
| Chromosome |
Reference Position |
| 7 |
87183197 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_000927  |
NP_000918  |
3 |
I [Ile] /
I [Ile]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TCTTCTAAAGTCAAGCCAACATTACTGGATTTCATTGGCATTTTATAATAATGGTTCATTTCTCAATGTAAACCACTTACAGTGAGT
ACTTGTCCAATAGAATATTCCCCTGAGAGGACCAAGGTGGTCCCATACCAGAAGGCCAGAGCATAAGATGCATAGATCAGCAGGAAAGCA
GCACCTATAGAAATATTGGCTGT A/G ATAGCTTTCTTTATCCCAATTCTTTTAGCTTCTTCTAAATTTTTGTTGTACCTGAGAAAAAG
AACAAAAATGATCACATATACATTTTATGAAAACATGTCGATATAGCATGATAGTTACAGAGTGGCTAGGATGTGTTCAGTCCTGTGATA
TACATGCATTTTGTCCTGCTGCTCATACATTGACCCTATATAGTAGTA-3'
[Top]
RS ID:
77144566
Alleles:
A/C
Validation:
Details:
| Chromosome |
Reference Position |
| 7 |
87170711 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
1 |
A [Ala] /
S [Ser]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GGCAAACATCTTTTTTCACTATGTCAGAAAAACTTGGCTGTTAGTAGCCATGTTAATAGAGAAGTTCTACTAAAAGGCCAATTACAC
TGATGTTTATAAATCCCCCCAGTTGAATAATGATGCATTTCTCAAAATGAATATAGTGAAAATGGAAACATTTACCTGAAGGAAAAATGT
AATAAAAGAAATAATTCCAAGGG A/C TAGAAACAATAGTGAAAACAAGTTACTATTCTGTCGTTTTGTTTCAGGATCATCAATTCTTG
TAAAAACCTGTGAGAAAACATTTAAAGGATTTTTAGTTCAATCAGTGAAGAACCCATCCTGGACCTGACCCATTTCCCATCTGGCCCAGT
ATTCAGGGGTCAGGAGAGCCTTAGTACGCTGGAAATTGGGGTTGGCTT-3'
[Top]
RS ID:
76812075
Alleles:
A/C
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 7 |
87214875 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| frameshift |
NM_000927  |
NP_000918  |
1 |
Not Applicable
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-AAACTGTACTAATTTTTCCTCTGCTATTCTTTTTTCTCTCTTTTTAGTTTCGCTATTCAARTTGGCTTGACAAGTTGTATATGGTGG
TGGGAACTTTGGCTGCCATCATCCATGGGGCTGGACTTCCTCTCATGATGCTGGTGTTTGGAGAAATGACAGATATCTTT A/C AAATG
CAGGAAATTTAGAAGATCTGATGTCAAACATCACTAATAGAAGTAAGTATTGTTTGTGTACCAATTTTATTGGAAACTTGCAGCAAAAAC
AAGCACTTAGAGTGATGTTTATGGATTCTTTACTAAATACACATTAGTGTGTTTAGTCCTGTAGGAGGCAGACAGTCTGAGTTATAATTC
ATATTTGTAGTGAGTTAGAAAAGATAATATTTACAAGCATTACAACACACAACTGA-3'
[Top]
RS ID:
76199854
Alleles:
A/G
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 7 |
87229444 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_000927  |
NP_000918  |
3 |
L [Leu] /
L [Leu]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-CGGGATGGATCTTGAAGGGGACCGCAATGGAGGAGCAAAGAAGAAGAACTTTTTTAAACT A/G ATGAGTACTAGCTTGTTTCATT
TTCATAGTTTACATAGTTGCGAGATTTGAGTAATTTAT-3'
[Top]
RS ID:
74986278
Alleles:
G/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 7 |
87329800 |
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-AAGTAACCTGGTTTGGTTATGAAAGTCCTCGTAGCTTCTGGGACTATATCAGAGTGGCTT G/T CCGGAAAGTTTCACAGAATTGT
ATCTGCAGCATTGAAAATATGGAAAATGTCAGTTCTTC-3'
[Top]
RS ID:
74755520
Alleles:
A/C
Validation:
Details:
| Chromosome |
Reference Position |
| 7 |
87144607 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
3 |
C [Cys] /
W [Trp]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TATTTAGGCTCTCAGACTTTATCCAAGTGGGACTGTTGTTTAAAGGTTTGAAAAAACATGGCTTATAGTTGAGAATTAAATACATTC
AGACATTTGGATGATGAAAACCTGAACTGAGCTAAATGTGAAAGTGTGCTCACCACTTTCCCTGCCAAGGGGTCGTAGAACCGCTCCAGG
AGCTGGACCACTGTGCTCTTCCC A/C CAGCCACTGCTGCCCACCAGAGCCAGCGTCTGGCCCTTCTTCACCTCCAGGCTCAGTCCCTG
AAGCACTGGGATGTCCGGTCGGGTGGGATAGTTGAATACAACTTCACCAAATGTGACATTTCCTTCCAATGTGTTCTGCAATGAGAAGAA
TAACAGTAAATTTGAATGCTGCAATACTGAAAATAAAGTGTATAGCTA-3'
[Top]
RS ID:
72552784
Alleles:
C/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 7 |
87145914 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
1 |
A [Ala] /
T [Thr]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GGTTTTTTCAATGATCATGATGATGTGGGCTGCTGATATTTTGGCTTTGG C/T ATAGTCAGGAGCAAATGAACTGACTTGCCCCA
CGGCCATGGCACCAAAGA-3'
[Top]
RS ID:
61607171
Alleles:
C/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 7 |
87196200 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
2 |
I [Ile] /
T [Thr]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GTGGAATTGGTGCTGGGGTGCTGGTTGCTGCTTACATTCAGGTTTCATTTTGGTGCCTGGCAGCTGGAAGACAAA C/T ACACAAA
ATTAGAAAACAGTTTTTTCATGCTATAATGCGACAGGAGATAGGCTGGTTTGATGTGCACGATGTTGG-3'
[Top]
RS ID:
61122623
Alleles:
A/G
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 7 |
87196129 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
1 |
V [Val] /
I [Ile]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-CAAATACACAAAATTAGAAAACAGTTTTTTCATGCTATAATGCGACAGGAGATAGGCTGGTTTGATGTGCACGAT A/G TTGGGGA
GCTTAACACCCGACTTACAGAGTAAGTATTTAGTTTTATGTTGAACTTGGGTGTCGTTCTTATCCTTA-3'
[Top]
RS ID:
60419673
Alleles:
A/G
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 7 |
87195540 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
2 |
N [Asn] /
S [Ser]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GAGAAAAGTTGATGTTTACAATTCTGACAATTATTTCTAACACTATCTGTTCTTTCAGTGATGTCTCCAAGATTA A/G TGAAGGA
ATTGGTGACAAAATTGGAATGTTCTTTCAGTCAATGGCAACATTTTTCACTGGGTTTATAGTAGGATT-3'
[Top]
RS ID:
60247941
Alleles:
C/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 7 |
87178757 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_000927  |
NP_000918  |
3 |
A [Ala] /
A [Ala]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-ATTTGACACCCTGGTTGGAGAGAGAGGGGCCCAGTTGAGTGGTGGGCAGAAGCAGAGGATCGCCATTGCACGTGC C/T CTGGTTC
GCAACCCCAAGATCCTCCTGCTGGATGAGGCCACGTCAGCCTTGGACACAGAAAGCGAAGCAGTGGTT-3'
[Top]
RS ID:
59697741
Alleles:
C/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 7 |
87178694 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_000927  |
NP_000918  |
3 |
S [Ser] /
S [Ser]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-CATTGCACGTGCCCTGGTTCGCAACCCCAAGATCCTCCTGCTGGATGAGGCCACGTCAGCCTTGGACACAGAAAG C/T GAAGCAG
TGGTTCAGGTGGCTCTGGATAAGGTCAGTGAGGCTTAGTTCAAACCAACCTGATTTATAAGCATAAGA-3'
[Top]
RS ID:
59340265
Alleles:
C/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 7 |
87174166 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_000927  |
NP_000918  |
3 |
D [Asp] /
D [Asp]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TTCAAATGATTCAAGATCCAGTCTAATAAGAAAAAGATCAACTCGTAGGAGTGTCCGTGGATCACAAGCCCAAGA C/T AGAAAGC
TTAGTACCAAAGAGGCTCTGGTATGAAGGGAGATGCGGAGTTTGTTTTAATCTCACTAACTGTGGTTC-3'
[Top]
RS ID:
59241388
Alleles:
A/G
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 7 |
87135347 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
1 |
K [Lys] /
E [Glu]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TAAGCAAGCTGTTAGAACTTTACTTTCAGTTCTACTTTCATAACAACAAAACCTTATTTACAGAAATATAGCACT A/G AAGTAGG
AGACAAAGGAACTCAGCTCTCTGGTGGCCAGAAACAACGCATTGCCATAGCTCGTGCCCTTGTTAGAC-3'
[Top]
RS ID:
57521326
Alleles:
A/G
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 7 |
87144567 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
1 |
D [Asp] /
N [Asn]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GGCCAGACGCTGGCTCTGGTGGGCAGCAGTGGCTGTGGGAAGAGCACAGTGGTCCAGCTCCTGGAGCGGTTCTAC A/G ACCCCTT
GGCAGGGAAAGTGGTGAGCACACTTTCACATTTAGCTCAGTTCAGGTTTTCATCATCCAAATGTCTGA-3'
[Top]
RS ID:
57001392
Alleles:
G/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 7 |
87175229 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
1 |
D [Asp] /
Y [Tyr]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-CGTTTGTCTACAGTTCGTAATGCTGACGTCATCGCTGGTTTCGATGATGGAGTCATTGTGGAGAAAGGAAATCAT G/T ATGAACT
CATGAAAGAGAAAGGCATTTACTTCAAACTTGTCACAATGCAGGTATAGTTTAACTTCAGAATTTTCC-3'
[Top]
RS ID:
56871767
Alleles:
A/G
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 7 |
87178715 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_000927  |
NP_000918  |
3 |
T [Thr] /
T [Thr]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TGGGCAGAAGCAGAGGATCGCCATTGCACGTGCCCTGGTTCGCAACCCCAAGATCCTCCTGCTGGATGAGGCCAC A/G TCAGCCT
TGGACACAGAAAGCGAAGCAGTGGTTCAGGTGGCTCTGGATAAGGTCAGTGAGGCTTAGTTCAAACCA-3'
[Top]
RS ID:
56849127
Alleles:
A/G
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 7 |
87145934 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
2 |
S [Ser] /
N [Asn]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GCACATGTTTTGTGTTTGTGCTTTCCAGAGTATTTTCAGCTGTTGTCTTTGGTGCCATGGCCGTGGGGCAAGTCA A/G TTCATTT
GCTCCTGACTATGCCAAAGCCAAAATATCAGCAGCCCACATCATCATGATCATTGAAAAAACCCCTTT-3'
[Top]
RS ID:
56107566
Alleles:
C/T
Validation:
Details:
| Chromosome |
Reference Position |
| 7 |
87175288 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
2 |
R [Arg] /
H [His]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TTAAACTATACCTGCATTGTGACAAGTTTGAAGTAAATGCCTTTCTCTTTCATGAGTTCATCATGATTTCCTTTCTCCACAATGACT
CCATCATCGAAACCAGCGATGACGTCAGCATTA C/T GAACTGTAGACAAACGATGAGCTATCACAATGGTGGTCCGACCTTTTCTGGC
CTAAAGAGAGAGAAATTTGGTTTTTGAATACATTAACAATTACCTGAAGAAACTTAACCATTCAACAT-3'
[Top]
RS ID:
55852620
Alleles:
G/T
Validation:
Details:
| Chromosome |
Reference Position |
| 7 |
87138760 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
2 |
Q [Gln] /
P [Pro]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-CTCACAATCTCTTCCTGTGACACCACCCGGCTGTTGTCTCCATAGGCAATGTTCTCAGCAATGCTGCAGTCAAACAGGATGGGCTCC
TGGGACACGATGCCCAGGTGTGCTCGGAGCCAC G/T GAACATTCAGTCGCTTTATTTCTTTGCCATCAAGCAGCTGAAAACAAGAGTT
CACAGATCAACTTCAGGACCAGCACACTTTGAATGTAGCACAATTAACATCATTATTTCTTACACTGA-3'
[Top]
RS ID:
41316450
Alleles:
A/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 7 |
87173449 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
2 |
I [Ile] /
K [Lys]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TATGTATGTTAGAGAACAGTGCATTCTCAAGCCAGCCTGACAAACATTTGAGGAACTCTCTTTGCACATTGGTGAAATGAAAGTTCA
CAAGATTTGTTCAGAGCCAAATGTTGGCAGGTATGAGAAAGTCATCTCATCACTTTCATTGACTATTTCAGGAAGCTGGTCTTTAGTTGC
CCAGGTTAGAAACCAACTGTGATGACAAAGGAAGGTTCACAAAGTTAGCTCTCCTATCACAAACCAGACTGCTATTCTTACATCTTCAAG
CCAATTAGTTTCATATGGAGATACGTGGATTTTGTTGTTTTTGTATCCCAGTTCAGACACAAGCACTTTATTCGTTCATTCTTCCATCAG
GATTCACAAGTAAATCACACAAATGGGCATCACACTTACCCCT A/T TAATCTTTGAAAATATTATTGCAAATGCTGGTTGCAGGCCTC
CATTTATAATGGCACAAAATACACCAACAACAAAATAAGGCCATTCAGTTAAATTTAGCTTCATAATCCTCCAAAAGGAAACTGGAGGTA
TACTTTCATCCTAGAAAACACAAATTATTACAACAGGCTAGTTAAAAACTTTTATATGTACAATTCTTACATACGCACAAAAATTAGTAA
AGGAATATATCCTATCCTTATTCCTTATCAATGAATAAGTGATGACAATTTTGCTTTAAAAAATGTCATAGTGATTATTATTTAGCTTCA
AAAAAATGTTGACAAATTTTGCTACAATACTCCTTTATTTTTTAAAAAATAAATGATGTTTCCACAAACACTTACTTTTATTTGGTAC-3
'
[Top]
RS ID:
41315618
Alleles:
G/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 7 |
87214936 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
1 |
I [Ile] /
L [Leu]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-AAGGTTCTAATTAAGTTCCTATATTTCTTCTTGAAGCTTTCCAGAATATTTCTGACTTCACAGGGCTCTCTCTTTTTCTACATATCT
CTGCTGGCACTTCAGTTGTGTGTTGTAATGCTTGTAAATATTATCTTTTCTAACTCACTACAAATATGAATTATAACTCAGACTGTCTGC
CTCCTACAGGACTAAACACACTAATGTGTATTTAGTAAAGAATCCATAAACATCACTCTAAGTGCTTGTTTTTGCTGCAAGTTTCCAATA
AAATTGGTACACAAACAATACTTACTTCTATTAGTGATGTTTGACATCAGATCTTCTAAATTTCCTGCATTTGCAAAGATATCTGTCATT
TCTCCAAACACCAGCATCATGAGAGGAAGTCCAGCCCCATGGA G/T GATGGCAGCCAAAGTTCCCACCACCATATACAACTTGTCAAG
CCAATTTGAATAGCGAAACTAAAAAGAGAGAAAAAAGAATAGCAGAGGAAAAATTAGTACAGTTTCATGGAAGATTTGCTTTTCCTTCAA
AATATATCCAAAATCCAAACATTTTTCAGACTACTACTGATACCAACCTAGTCCAAGACACCCTCTACCTTTGCTAAATTATTGCAATAG
TCTAATTAGAAATGGACATTTGATTCTTCCATTGAGTTCTGGCCTAATTCTTCATATTGGACTTGGTCTGTCTTCTTATATGAAGTCTAA
TGAGAAGGATGGGACATTCTGGGAAACTGTAAAAGTATTTAATGGTATATAATATGGTATTTGTTGCTCTAGTTTCTAAGAATAGAAG-3
'
[Top]
RS ID:
41311775
Alleles:
C/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 7 |
87179511 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_000927  |
NP_000918  |
3 |
R [Arg] /
R [Arg]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-AGGCCTGCATTTTATTTTTTGCACCTCTAGAAAGGCAAAGGGCAAGGACAACTTACATGAGGCAGTTTCATGATAAAGTCATAGGCA
TTGGCTTCCTTGACAGCTTTCTCAATCTCATCCATGGTGACATTTTCACGGCCATAGCGAATGTTTTCAGCTATCGTGGTGGCAAACAAT
ACAGGTTCCTGACTCACCACACCAATGATTTCCCGTAGAAACCTTACATTTATGGTCCTAATATCCTGTCCATCAACACTGACCTGGAAT
AAAAAGTAAGTGTGACTTTCATACATTTGTAATTGAAAGGGCAACATCAGAAAGATGTGCAATGTGACTGCTGATCACCGCAGGGTCTAG
CTCGCATGGGTCATCTCACCATCCCCTCTGTGGGGTCATAGAG C/T CTCTGCATCAGCTGGACTGTTGTGCTCTTCCCACAGCCACTG
TTTCCAACCAGGGCCACCGTCTGCCCACTCTGCACCTTCAGGTTCAGACCCTTCAAGATCTACCAGGACGAGTGAGAAAAAAACTTCAAG
GCAATTCACAGACACAGGATATAGGAACTGACTGTTCACTAGGTTTAAATATACATGCACTTTTTTATAATCTCTACAAGAAAACATCAG
AAACTCTTCATTCAATAGATTAATTGTTGATTAATCATTTATCACTGTACCTTAACTTCTTTTCGAGATGGGTAACTGAAGTGAACATTT
CTGAATTCCAAATTTCCCTTAATATTATCTGGTTTGTGCCCACTCTTCGAATAGCTGTCAATACTTGGCTTCTAAACAGAATCAAATT-3
'
[Top]
RS ID:
41309231
Alleles:
A/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 7 |
87133733 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
3 |
E [Glu] /
D [Asp]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TCTGTTATAAAATTTATAATGCAGTTTAAACTATGATTTCTCTCCACTTGATGATGTCTCTCACTCTGTTCCTTTAATTACGAAGTC
TCTGAAGACTCTGAACTTGACTGAGGAAATGTTAAACAGATACCTCTTCATAATTCTGTAAGTGTTTGCTTTTAACTTTGAATAAATGTC
ATATCTAAACAAATATTAAAAAGTATTTAACATCTCATACAGTCAGAGTTCACTGGCGCTTTGTTCCAGCCTGGACACTGACCATTGAAA
AATAGATGCCTTTCTGTGCCAGCAGCTGCTGATGCGTGCCATGCTCCTTGACTCTGCCATTCTGAAACACCACTATTAAGTCTGCATTCT
GGATGGTGGACAGGCGGTGAGCAATCACAATGCAGGTGCGGCC A/T TCTCTGGCTTTGTCCAGGGCTTCTTGGACAACCTATTCCATA
ATCACATAGATTAATTCTCATAATAGTTCTTTTCCCTAATTCCTCTTCCATAAAAAGCTCCACAGTAGGACGGGCATGGTGGCTCACGCC
TGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTA
TCAAAAATACAAAAAATTAGCTGGGCTTGGTGGTGGGTGCCTGTAGTCCCAGCTAGTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCC
GGGAGGCAGAGCTTGCAGGGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAGAAAAAAAAA-3
'
[Top]
RS ID:
41309228
Alleles:
A/C
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 7 |
87138670 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
2 |
S [Ser] /
I [Ile]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GGCTGACAAAGGTGGAGCCTCAAGCCTATAGCTTTGGATCAAGACAATTGTTCCAGTTCTCCTATCCCAGAAATGTTCCTCTCTCCT
AAACCTGAAGTGGTCGAACACTTTCATCCCTTCCTCACAAGGAGGGTCAGGTGATCAGGTAAAGGTAACAACTAACCCAAACAGGAAGTG
TGGCCAGATGCTTGTATACAGGTAAGGGTGTGATTTGGTTGCTAATTTCTCTTCACTTCTGGGAGACCAGCCCCTTATAAATCAAACTAT
AGGCCAGAGAGGCTGCCACATGCTCCCAGGCTGTTTATTTGAAGAGAGACTTACATTAGGCAGTGACTCGATGAAGGCATGTATGTTGGC
CTCCTTTGCTGCCCTCACAATCTCTTCCTGTGACACCACCCGG A/C TGTTGTCTCCATAGGCAATGTTCTCAGCAATGCTGCAGTCAA
ACAGGATGGGCTCCTGGGACACGATGCCCAGGTGTGCTCGGAGCCACTGAACATTCAGTCGCTTTATTTCTTTGCCATCAAGCAGCTGAA
AACAAGAGTTCACAGATCAACTTCAGGACCAGCACACTTTGAATGTAGCACAATTAACATCATTATTTCTTACACTGAAACTGCCAAGTT
ACTGTGAGATTAAGGAAAAGTTTGTGTGATTAAAATTTGGATAGTGAAGGTTAACCCAACAAGGTCATAATTGTATGCCTTGAGGAACTG
TCATGTTTCCTGTGTTTCAACCATGGTTTCTGATGTATGCATGTGGTAGGCAGAATAATGTTCCCTCTCCCACAAGACATCTGTGTCC-3
'
[Top]
RS ID:
41309225
Alleles:
C/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 7 |
87138785 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
1 |
K [Lys] /
E [Glu]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-CCTTCCTCACAAGGAGGGTCAGGTGATCAGGTAAAGGTAACAACTAACCCAAACAGGAAGTGTGGCCAGATGCTTGTATACAGGTAA
GGGTGTGATTTGGTTGCTAATTTCTCTTCACTTCTGGGAGACCAGCCCCTTATAAATCAAACTATAGGCCAGAGAGGCTGCCACATGCTC
CCAGGCTGTTTATTTGAAGAGAGACTTACATTAGGCAGTGACTCGATGAAGGCATGTATGTTGGCCTCCTTTGCTGCCCTCACAATCTCT
TCCTGTGACACCACCCGGCTGTTGTCTCCATAGGCAATGTTCTCAGCAATGCTGCAGTCAAACAGGATGGGCTCCTGGGACACGATGCCC
AGGTGTGCTCGGAGCCACTGAACATTCAGTCGCTTTATTTCTT C/T GCCATCAAGCAGCTGAAAACAAGAGTTCACAGATCAACTTCA
GGACCAGCACACTTTGAATGTAGCACAATTAACATCATTATTTCTTACACTGAAACTGCCAAGTTACTGTGAGATTAAGGAAAAGTTTGT
GTGATTAAAATTTGGATAGTGAAGGTTAACCCAACAAGGTCATAATTGTATGCCTTGAGGAACTGTCATGTTTCCTGTGTTTCAACCATG
GTTTCTGATGTATGCATGTGGTAGGCAGAATAATGTTCCCTCTCCCACAAGACATCTGTGTCCTAATCCCTGGATCCTGTGAATGTGTTA
TGTTACATGGCAAAAAGAAACTAAAGTAGTAGATGTAAGGTTGCTAATCAGCTGACTGTAAAATAAGATTATCCTGAATTATCTTGGT-3
'
[Top]
RS ID:
41305517
Alleles:
C/T
Validation:
Details:
| Chromosome |
Reference Position |
| 7 |
87165857 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
1 |
D [Asp] /
N [Asn]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TTCAGTAGCAATTACTGTTTTATGTTGATTGAGCACTTTATACTCTCTTTTCTAAATAACTATTCTACATGCATCTTGTTAATAGCA
TGAATAACAGCAATAGCAAATGGTTTATAAGTTATCTATATGCTCTACAGTATATAATGTTTAAATAGTTAACATGTTGCTACAAAAAGC
ATGTGATATATTCGTAGGTTAGATATTTATTCAACATTTTCTTAATGATGATAACTAACACCCGTAAGGAGAAAATTAGTTTCATGCTGG
GGTCCAAAATGGCCAATTAAGACAAACACCAGTAGAAAGGAGGCACGTACCCCTTTAACTTGAGCAGCATCATTGGCGAGCCTGGTAGTC
AATGCTCCAGTGGTGTTTTTAGGGTCATCAAACCAACTCACAT C/T CTGTGGCACAGAAAATGATTTTATTACCTTAAAGCTGTTTAT
GAGACTCTCAGCTCCAAGAGGGCAGCGATGGGGTCAGTTTTGTTTATACTTATACCCCCTGCATTTAGTACTCAGGATGTGACATTCAAT
ACACAAGAAAGAAACTTAATATAAAAACACATAAATAGATCATTTCATTTGTCAGAAAAATTTCTGAGTGCCTACTTTCTCCTACGCATG
ATTTCTAAGTGTTGGACCTGTACGAACAAAAAAGACAAAGTAGCTGCTTTCATGAAGTTTAGATTCTAGAGATGGAAGGTACAAATAAAA
GAAAAATTGAGCAGGGTAAGAAGAACAGAAAAGTGAGGGGAGGTGCTATTTTAGAGACTGGGGAGGGGAAACAGAAGGCCTTTCTAAG-3
'
[Top]
RS ID:
41304191
Alleles:
A/G
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 7 |
87229446 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_000927  |
NP_000918  |
1 |
L [Leu] /
L [Leu]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TTTCAAAGTAGCTAGAAGACTTAAAATGTTATCAACACATAGAAATGAAATATACCTAAGGTGATGTATCCTTCAAATACCCGGACT
TGATCATTACACATTCCGGGCATGTAAAAAACGCTTCCATGTACCCCATTTCATAAATATGTAAAATATTATGTATCATTAAAAGAAAGA
ACAAAAAAGACAGGGAAAATGCATATGCTGTGCTCCACTCAGCCAACAAACTTCTGCTCTAAGCAGGGATATTGATTCCAAAGGCTAGCT
TGCGTTTCTTAAAAATAATTAAAAACAACAACATGTCATTTATTTCAGAGCTGGAGGCTAGAAATAAATTACTCAAATCTCGCAACTATG
TAAACTATGAAAATGAAACAAGCTAGTTACCTTTTATTGTTCA A/G TTTAAAAAAGTTCTTCTTCTTTGCTCCTCCATTGCGGTCCCC
TTCAAGATCCATTCCGACCTGAAGAGAAACCGCAGCTCATTAGCCAAATGCATGAGCCTCAGGCGCGCTGGAGGTGAGACTAACCTCTAG
TCCCCCGTCGAAGCCAGAGAGCAGTAAGAGGGAGCGCCCGCCGTTGATGCCCCAGCTGCTCTGGCCGCGATGGGCACTGCAGGGGCTTTC
CTGTGCGCGGGGTCTCCAGCATCTCCACGAAGGCAGAGTTGGGGGTCTGGCAGCGCGTTCTGGACTTTGCCCGCCGCCAGTGCGATTCTC
CCTCCCGGTTCCAGTCGCCGCGGACGATGCTTCCTCCCACCCACCGCCCGCGGGCTCAGAGAGCAGGTCCCCGCACCGCGCGGGCTGT-3
'
[Top]
RS ID:
36105130
Alleles:
A/G
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 7 |
87160748 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
3 |
I [Ile] /
M [Met]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TGTTTTGCAGGCTATAGGTTCCAGGCTTGCTGTAATTACCCAGAATATAGCAAATCTTGGGACAGGAATAATTAT A/G TCCTTCA
TCTATGGTTGGCAACTAACACTGTTACTCTTAGCAATTGTACCCATCATTGCAATAGCAGGAGTTGTT-3'
[Top]
RS ID:
36008564
Alleles:
A/G
Validation:
Details:
| Chromosome |
Reference Position |
| 7 |
87190625 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
1 |
I [Ile] /
V [Val]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-CTATCTTCATTTACTGATAAAGAACTCTTAGCGTATGCAAAAGCTGGAGCAGTAGCTGAAGAGGTCTTGGCAGCA A/G TTAGAAC
TGTGATTGCATTTGGAGGACAAAAGAAAGAACTTGAAAGGTTTGAGTTTCTTTTTTAAATGGATAGAT-3'
[Top]
RS ID:
35810889
Alleles:
C/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 7 |
87214848 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
2 |
M [Met] /
T [Thr]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GACTTCCTCTCATGATGCTGGTGTTTGGAGAAATGACAGATATCTTTGCAAATGCAGGAAATTTAGAAGATCTGA C/T GTCAAAC
ATCACTAATAGAAGTAAGTATTGTTTGTGTACCAATTTTATTGGAAACTTGCAGCAAAAACAAGCACT-3'
[Top]
RS ID:
35730308
Alleles:
C/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 7 |
87138758 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
1 |
W [Trp] /
R [Arg]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TGGTCCTGAAGTTGATCTGTGAACTCTTGTTTTCAGCTGCTTGATGGCAAAGAAATAAAGCGACTGAATGTTCAG C/T GGCTCCG
AGCACACCTGGGCATCGTGTCCCAGGAGCCCATCCTGTTTGACTGCAGCATTGCTGAGAACATTGCCT-3'
[Top]
RS ID:
35721439
Alleles:
A/C
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 7 |
87133635 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
2 |
T [Thr] /
K [Lys]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-CTCACCGCCTGTCCACCATCCAGAATGCAGACTTAATAGTGGTGTTTCAGAATGGCAGAGTCAAGGAGCATGGCA A/C GCATCAG
CAGCTGCTGGCACAGAAAGGCATCTATTTTTCAATGGTCAGTGTCCAGGCTGGAACAAAGCGCCAGTG-3'
[Top]
RS ID:
35657960
Alleles:
G/T
Validation:
Details:
| Chromosome |
Reference Position |
| 7 |
87174218 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
2 |
L [Leu] /
R [Arg]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TGCATATTTCTTATTTATTTTAGACAGCAGGAAATGAAGTTGAATTAGAAAATGCAGCTGATGAATCCAAAAGTGAAATTGATGCCT
TGGAAATGTCTTCAAATGATTCAAGATCCAGTC G/T AATAAGAAAAAGATCAACTCGTAGGAGTGTCCGTGGATCACAAGCCCAAGAC
AGAAAGCTTAGTACCAAAGAGGCTCTGGTATGAAGGGAGATGCGGAGTTTGTTTTAATCTCACTAACT-3'
[Top]
RS ID:
35633772
Alleles:
C/T
Validation:
Details:
| Chromosome |
Reference Position |
| 7 |
87178772 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_000927  |
NP_000918  |
3 |
I [Ile] /
I [Ile]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TTTTCTGTGGTAGAAATTTGACACCCTGGTTGGAGAGAGAGGGGCCCAGTTGAGTGGTGGGCAGAAGCAGAGGAT C/T GCCATTG
CACGTGCCCTGGTTCGCAACCCCAAGATCCTCCTGCTGGATGAGGCCACGTCAGCCTTGGACACAGAA-3'
[Top]
RS ID:
35068177
Alleles:
A/G
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 7 |
87179529 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_000927  |
NP_000918  |
3 |
T [Thr] /
T [Thr]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GGGCCTGAACCTGAAGGTGCAGAGTGGGCAGACGGTGGCCCTGGTTGGAAACAGTGGCTGTGGGAAGAGCACAAC A/G GTCCAGC
TGATGCAGAGGCTCTATGACCCCACAGAGGGGATGGTGAGATGACCCATGCGAGCTAGACCCTGCGGT-3'
[Top]
RS ID:
35023033
Alleles:
C/T
Validation:
Details:
| Chromosome |
Reference Position |
| 7 |
87174198 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
1 |
R [Arg] /
C [Cys]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TCCAAAAGTGAAATTGATGCCTTGGAAATGTCTTCAAATGATTCAAGATCCAGTCTAATAAGAAAAAGATCAACT C/T GTAGGAG
TGTCCGTGGATCACAAGCCCAAGACAGAAAGCTTAGTACCAAAGAGGCTCTGGTATGAAGGGAGATGC-3'
[Top]
RS ID:
34748655
Alleles:
C/T
Validation:
Details:
| Chromosome |
Reference Position |
| 7 |
87138684 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_000927  |
NP_000918  |
3 |
A [Ala] /
A [Ala]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GATGGCAAAGAAATAAAGCGACTGAATGTTCAGTGGCTCCGAGCACACCTGGGCATCGTGTCCCAGGAGCCCATCCTGTTTGACTGC
AGCATTGCTGAGAACATTGC C/T TATGGAGACAACAGCCGGGTGGTGWCACAGGAAGAGATYGTGAGGGCAGCAAAGGAGGCCAACAT
ACATGCCTTCATCGAGTCACTGCCTAATGTAAGTCTCTCTTCAAATAAACAGCCTGGGAGCATGTGGCAGCCTCTCTGGCCTATAGKTTG
ATTTATAAGGGGCTGGTYTCCCAGAAGTGAAGA-3'
[Top]
RS ID:
28401798
Alleles:
C/G
Validation:
Details:
| Chromosome |
Reference Position |
| 7 |
87144678 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
1 |
P [Pro] /
A [Ala]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-CTCTGTCTCAAAAAAATAAAAAATAAATAAATAATAAAATTAAAATAAAATAAATTCTAGCAGTTTGAAGTGAAGCCAATTGTAACA
CAAATTAATTATCTTCTGACACCTGGTAATCGAGAGAGTTAGCTATACACTTTATTTTCAGTATTGCAGCATTCAAATTTACTGTTATTC
TTCTCATTGCAGAACACATTGGAAGGAAATGTCACATTTGGTGAAGTTGTATTCAACTATCCCACCCGACCGGACATC C/G CAGTGCT
TCAGGGACTGAGCCTGGAGGTGAAGAAGGGCCAGACGCTGGCTCTGGTGGGCAGCAGTGGCTGTGGGAAGAGCACAGTGGTCCAGCTCCT
GGAGCGGTTCTACGACCCCTTGGCAGGGAAAGTGGTGAGCACACTTTCACATTTAGCTCAGTTCAGGTTTTCATCATCCAAATGTCTGAA
TGTATTTAATTCTCAACTATAAGCCATGTTTTTTCAAACCTTTAAACAACAGTCCCACTTGGATAAAG-3'
[Top]
RS ID:
28381967
Alleles:
A/G
Validation:
Details:
| Chromosome |
Reference Position |
| 7 |
87160789 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
1 |
I [Ile] /
V [Val]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-ATAGGAATATGTAATTGAACTCTAGATTGTTGATATTCTACTTTCAGCATTCTGAAGTCATGGAAATTCTTACTGTAGAAACTCAAT
AAACTTACAAGTAGACCTTTACTTTTTAGTTCATTACTGATAAAATAATGAATATAGTCTCATGAAGGTGAGTTTTCAGAAAATAGAAGC
ATGAGTTGTGAAGATAATATTTTTAAAATTTCTCTAATTTGTTTTGTTTTGCAGGCTATAGGTTCCAGGCTTGCTGTA A/G TTACCCA
GAATATAGCAAATCTTGGGACAGGAATAATTATATCCTTCATCTATGGTTGGCAACTAACACTGTTACTCTTAGCAATTGTACCCATCAT
TGCAATAGCAGGAGTTGTTGAAATGAAAATGTTGTCTGGACAAGCACTGAAAGATAAGAAAGAACTAGAAGGTGCTGGGAAGGTGAGTCA
AACTAAATATGATTGATTAATTAAGTAGAGTAAAGTATTCTAATCAGTGTTATTTTGTTACTCCCTAC-3'
[Top]
RS ID:
28381966
Alleles:
A/G
Validation:
Details:
| Chromosome |
Reference Position |
| 7 |
87160790 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_000927  |
NP_000918  |
3 |
V [Val] /
V [Val]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GATAGGAATATGTAATTGAACTCTAGATTGTTGATATTCTACTTTCAGCATTCTGAAGTCATGGAAATTCTTACTGTAGAAACTCAA
TAAACTTACAAGTAGACCTTTACTTTTTAGTTCATTACTGATAAAATAATGAATATAGTCTCATGAAGGTGAGTTTTCAGAAAATAGAAG
CATGAGTTGTGAAGATAATATTTTTAAAATTTCTCTAATTTGTTTTGTTTTGCAGGCTATAGGTTCCAGGCTTGCTGT A/G ATTACCC
AGAATATAGCAAATCTTGGGACAGGAATAATTATATCCTTCATCTATGGTTGGCAACTAACACTGTTACTCTTAGCAATTGTACCCATCA
TTGCAATAGCAGGAGTTGTTGAAATGAAAATGTTGTCTGGACAAGCACTGAAAGATAAGAAAGAACTAGAAGGTGCTGGGAAGGTGAGTC
AAACTAAATATGATTGATTAATTAAGTAGAGTAAAGTATTCTAATCAGTGTTATTTTGTTACTCCCTA-3'
[Top]
RS ID:
28381915
Alleles:
C/T
Validation:
Details:
| Chromosome |
Reference Position |
| 7 |
87175272 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_000927  |
NP_000918  |
3 |
I [Ile] /
I [Ile]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-ATTACAAGGAAACATCATTTTTAACTATTATCAATTGTCTATACATTTATTGAAGTCAGAGGCTATCTTATATAGATTTGATGGTTT
TACAATGCCCACAGCATTGGTTCAGTAAATATATGTTGAATGGTTAAGTTTCTTCAGGTAATTGTTAATGTATTCAAAAACCAAATTTCT
CTCTCTTTAGGCCAGAAAAGGTCGGACCACCATTGTGATAGCTCATCGTTTGTCTACAGTTCGTAATGCTGACGTCAT C/T GCTGGTT
TCGATGATGGAGTCATTGTGGAGAAAGGAAATCATGATGAACTCATGAAAGAGAAAGGCATTTACTTCAAACTTGTCACAATGCAGGTAT
AGTTTAACTTCAGAATTTTCCTAAGTCATCTCAGTGATAAACTGATTTTGCATTTAATGCTAAAAATAAATATTATTTGATTTGATTACC
TTACAAAGTAGGAAACAACACCTGGGGGATTCAGGATGAGACCAGTGTTTAAGATTTTTTTTCTCTCT-3'
[Top]
RS ID:
28381914
Alleles:
C/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 7 |
87175289 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
1 |
R [Arg] /
C [Cys]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TATTTGTGTTTGTATTTATTACAAGGAAACATCATTTTTAACTATTATCAATTGTCTATACATTTATTGAAGTCAGAGGCTATCTTA
TATAGATTTGATGGTTTTACAATGCCCACAGCATTGGTTCAGTAAATATATGTTGAATGGTTAAGTTTCTTCAGGTAATTGTTAATGTAT
TCAAAAACCAAATTTCTCTCTCTTTAGGCCAGAAAAGGTCGGACCACCATTGTGATAGCTCATCGTTTGTCTACAGTT C/T GTAATGC
TGACGTCATCGCTGGTTTCGATGATGGAGTCATTGTGGAGAAAGGAAATCATGATGAACTCATGAAAGAGAAAGGCATTTACTTCAAACT
TGTCACAATGCAGGTATAGTTTAACTTCAGAATTTTCCTAAGTCATCTCAGTGATAAACTGATTTTGCATTTAATGCTAAAAATAAATAT
TATTTGATTTGATTACCTTACAAAGTAGGAAACAACACCTGGGGGATTCAGGATGAGACCAGTGTTTA-3'
[Top]
RS ID:
28381902
Alleles:
A/G
Validation:
Details:
| Chromosome |
Reference Position |
| 7 |
87178693 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
1 |
E [Glu] /
K [Lys]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-CTGGACCTGTATTACTTGTGAGACTTGGGCTGTGTATAGGATTCCTTACCAATTTAAAATATGAGCTGAGATAGCTTGTCCTTATGC
TAAATCATTCTGGGTTTTCTGTGGTAGAAATTTGACACCCTGGTTGGAGAGAGAGGGGCCCAGTTGAGTGGTGGGCAGAAGCAGAGGATC
GCCATTGCACGTGCCCTGGTTCGCAACCCCAAGATCCTCCTGCTGGATGAGGCCACGTCAGCCTTGGACACAGAAAGC A/G AAGCAGT
GGTTCAGGTGGCTCTGGATAAGGTCAGTGAGGCTTAGTTCAAACCAACCTGATTTATAAGCATAAGAACATTCTACTACTAATTCTTGTT
AATATTGGTCTTAGAAAAGGAAATTTCTGATAGCTTCTAGGTGATTCCTTCAGCTATTAAAATAAAAGCATTGGGCCTCTTTGAAATCTT
TTTCTATTTGTTTGTTTTATTGTTCAATTTCTATTTATTTCTCTGATCTTATTTTAAATGTTGATGAA-3'
[Top]
RS ID:
28381867
Alleles:
A/G
Validation:
Details:
| Chromosome |
Reference Position |
| 7 |
87190668 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_000927  |
NP_000918  |
3 |
A [Ala] /
A [Ala]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-AATAGGACCCTCTGGGACCCAAGTTCATGCATCAGTGGCTGGTTTCAGGGAGAGGTTTACTTCAGTGGCTGTTAATACAGACCAAAG
GCAAGTAAAAGACAGATTTTGCTCTACACATGCATTAATGTATAAGCAGCATTTATGTATACATTTATTTTTACTTTACAAAAGATAAAA
TTAACGTGTTTTTTTCATGATCCAAAATTGTATTTTTAAACAGATACTATCTTCATTTACTGATAAAGAACTCTTAGC A/G TATGCAA
AAGCTGGAGCAGTAGCTGAAGAGGTCTTGGCAGCAATTAGAACTGTGATTGCATTTGGAGGACAAAAGAAAGAACTTGAAAGGTTTGAGT
TTCTTTTTTAAATGGATAGATATGTTAAATTCTGTCTTCTCAAATGCCCTTCAGATTGACAGTGTTATTTATAAGCATTTTCTCCCATAT
ATATGTTTTCTTAAATAGCTTAATGGATGTATTACAGCATAACTAATATTTTGGAGAAGTTGCAATTC-3'
[Top]
RS ID:
28381804
Alleles:
C/T
Validation:
Details:
| Chromosome |
Reference Position |
| 7 |
87229452 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
1 |
F [Phe] /
L [Leu]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-ACTCTGCCTTCGTGGAGATGCTGGAGACCCCGCGCACAGGAAAGCCCCTGCAGTGCCCATCGCGGCCAGAGCAGCTGGGGCATCAAC
GGCGGGCGCTCCCTCTTACTGCTCTCTGGCTTCGACGGGGGACTAGAGGTTAGTCTCACCTCCAGCGCGCCTGAGGCTCATGCATTTGGC
TAATGAGCTGCGGTTTCTCTTCAGGTCGGGATGGATCTTGAAGGGGACCGCAATGGAGGAGCAAAGAAGAAGAACTTT C/T TTAAACT
GAACAATAAAAGGTAACTAGCTTGTTTCATTTTCATAGTTTACATAGTTGCGAGATTTGAGTAATTTATTTCTAGCCTCCAGCTCTGAAA
TAAATGACATGTTGTTGTTTTTAATTATTTTTAAGAAACGCAAGCTAGCCTTTGGAATCAATATCCCTGCTTAGAGCAGAAGTTTGTTGG
CTGAGTGGAGCACAGCATATGCATTTTCCCTGTCTTTTTTGTTCTTTCTTTTAATGATACATAATATT-3'
[Top]
RS ID:
28364274
Alleles:
A/G
Validation:
Details:
| Chromosome |
Reference Position |
| 7 |
87133651 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
1 |
V [Val] /
I [Ile]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGTCCTACTGTGGAGCTTTTTATGGAAG
AGGAATTAGGGAAAAGAACTATTATGAGAATTAATCTATGTGATTATGGAATAGGTTGTCCAAGAAGCCCTGGACAAAGCCAGAGAAGGC
CGCACCTGCATTGTGATTGCTCACCGCCTGTCCACCATCCAGAATGCAGACTTAATAGTGGTGTTTCAGAATGGCAGA A/G TCAAGGA
GCATGGCACGCATCAGCAGCTGCTGGCACAGAAAGGCATCTATTTTTCAATGGTCAGTGTCCAGGCTGGAACAAAGCGCCAGTGAACTCT
GACTGTATGAGATGTTAAATACTTTTTAATATTTGTTTAGATATGACATTTATTCAAAGTTAAAAGCAAACACTTACAGAATTATGAAGA
GGTATCTGTTTAACATTTCCTCAGTCAAGTTCAGAGTCTTCAGAGACTTCGTAATTAAAGGAACAGAG-3'
[Top]
RS ID:
17852065
Alleles:
A/C
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 7 |
87280154 |
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-CCCCAAATTGCCTTCCTCCCATTTTTTTCATACTTAGGGAATGAATCAACTCTGCCTAAAAGCAACAATAATCTTTTTTTCATAGGT
TTTCTGTGAAGACC A/C TGATTGATCGGTCTTGCTTTGAGACAATTGATGATTCTTCTCCTGAATTTAACAATTTTGCAGCTATTTTG
GAACAGATTTTAAGCCACCGGCTAAAAG-3'
[Top]
RS ID:
9332385
Alleles:
A/G
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 7 |
87229440 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| frameshift |
NM_000927  |
NP_000918  |
3 |
LN /
L [Leu]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-CGCGCACAGGAAAGCCCCTGCAGTGCCCATCGCGGCCAGAGCAGCTGGGGCATCAACGGCGGGCGCTCCCTCTTACTGCTCTCTGGC
TTCGACGGGGGACTAGAGGTTAGTCTCACCTCCAGCGCGCCTGAGGCTCATGCATTTGGCTAATGAGCTGCGGTTTCTCTTCAGGTCGGG
ATGGATCTTGAAGGGGACCGCAATGGAGGAGCAAAGAAGAAGAACTTTTTTAAACT A/G ATGAGTACTAGCTTGTTTCATTTTCATAG
TTTACATAGTTGCGAGATTTGAGTAATTTATTTCTAGCCTCCAGCTCTGAAATAAATGACATGTTGTTGTTTTTAATTATTTTTAAGAAA
CGCAAGCTAGCCTTTGGAATCAATATCCCTGCTTAGAGCAGAAGTTTGTTGGCTGAGTGGAGCACAGCATATGCATTTTCCCTGTCTTTT
TTGttctttcttttaatgatacataatattttacatatttatgaaatggggtacatggaagcgttttttacatgcccggaatgtgtaatg
atcaagtccgggtatttgaaggatacatcaccttaggtatatttcatttctatgtgttggTGCAAAGTGTGGCACATAT-3'
[Top]
RS ID:
9282565
Alleles:
A/C
Validation:
Details:
| Chromosome |
Reference Position |
| 7 |
87214875 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
2 |
A [Ala] /
V [Val]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-AAACTGTACTAATTTTTCCTCTGCTATTCTTTTTTCTCTCTTTTTAGTTTCGCTATTCAARTTGGCTTGACAAGTTGTATATGGTGG
TGGGAACTTTGGCTGCCATCATCCATGGGGCTGGACTTCCTCTCATGATGCTGGTGTTTGGAGAAATGACAGATATCTTTG A/C AAAT
GCAGGAAATTTAGAAGATCTGATGTCAAACATCACTAATAGAAGTAAGTATTGTTTGTGTACCAATTTTATTGGAAACTTGCAGCAAAAA
CAAGCACTTAGAGTGATGTTTATGGATTCTTTACTAAATACACATTAGTGTGTTTAGTCCTGTAGGAGGCAGACAGTCTGAGTTATAATT
CATATTTGTAGTGAGTTAGAAAAGATAATATTTACAAGCATTACAACACACAACTGA-3'
[Top]
RS ID:
9282564
Alleles:
A/G
Validation:
Details:
| Chromosome |
Reference Position |
| 7 |
87229440 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
1 |
N [Asn] /
Y [Tyr]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-CGCGCGGTGCGGGGACCTGCTCTCTGAGCCCGCGGGCGGTGGGTGGGAGGAAGCATCGTCCGCGGCGACTGGAACCGGGAGGGAGAA
TCGCACTGGCGGCGGGCAAAGTCCAGAACGCGCTGCCAGACCCCCAACTCTGCCTTCGTGGAGATGCTGGAGACCCCGCGCACAGGAAAG
CCCCTGCAGTGCCCATCGCGGCCAGAGCAGCTGGGGCATCAACGGCGGGCGCTCCCTCTTACTGCTCTCTGGCTTCGACGGGGGACTAGA
GGTTAGTCTCACCTCCAGCGCGCCTGAGGCTCATGCATTTGGCTAATGAGCTGCGGTTTCTCTTCAGGTCGGAATGGATCTTGAAGGGGA
CCGCAATGGAGGAGCAAAGAAGAAGAACTTTTTTAAACTGAAC A/G ATAAAAGGTAACTAGCTTGTTTCATTTTCATAGTTTACATAG
TTGCGAGATTTGAGTAATTTATTTCTAGCCTCCAGCTCTGAAATAAATGACATGTTGTTGTTTTTAATTATTTTTAAGAAACGCAAGCTA
GCCTTTGGAATCAATATCCCTGCTTAGAGCAGAAGTTTGTTGGCTGAGTGGAGCACAGCATATGCATTTTCCCTGTCTTTTTTGTTCTTT
CTTTTAATGATACATAATATTTTACATATTTATGAAATGGGGTACATGGAAGCGTTTTTTACATGCCCGGAATGTGTAATGATCAAGTCC
GGGTATTTGAAGGATACATCACCTTAGGTATATTTCATTTCTATGTGTTGATAACATTTTAAGTCTTCTAGCTACTTTGAAATATACA-3
'
[Top]
RS ID:
9282563
Alleles:
C/T
Validation:
Details:
| Chromosome |
Reference Position |
| 7 |
87160645 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_000927  |
NP_000918  |
1 |
L [Leu] /
L [Leu]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TAAAATAATGAATATAGTCTCATGAAGGTGAGTTTTCAGAAAATAGAAGCATGAGTTGTGAAGATAATATTTTTAAAATTTCTCTAA
TTTGTTTTGTTTTGCAGGCTRTAGGTTCCAGGCTTGCTGTAATTACCCAGAATATAGCAAATCTTGGGACAGGAATAATTATATCCTTCA
TCTATGGTTGGCAACTAACACTGTTACTCTTAGCAATTGTACCCATCATTGCAATAGCAGGAGTTGTTGAAATGAAAATGTTGTCTGGAC
AAGCA C/T TGAAAGATAAGAAAGAACTAGAAGGTDCTGGGAAGGTGAGTCAAACTAAATATGATTGATTAATTAAGTAGAGTAAAGTA
TTCYAATCAGTGTTATTTTGTYACTCCCTACTGCTTACTATGCTCTAAGAATGTGTTTATAACCATTCCTCAAAGCAATCTTTTTCATGC
TTATTCAGTAAATTAGAAACTTACAGAAAGTAGCAAAGCCAGTTCTTGGACTCAAAAACTGATAATTAACTTTAACAGACTTTTTCAGTT
TTCAGGCCATTGTCTTCACACTGTTCTTCCTTCCTCCCCACTTTCCTCCTTCCCTTAGTTATKTTCT-3'
[Top]
RS ID:
2707944
Alleles:
C/G
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 7 |
87144641 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
2 |
G [Gly] /
A [Ala]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GTTGTTTAAAGGTTTGAAAAAACATGGCTTATAGTTGAGAATTAAATACATTCAGACATTTGGATGATGAAAACCTGAACTGAGCTA
AATGTGAAAGTGTGCTCACCACTTTCCCTGCCAAGGGGTCGTAGAACCGCTCCAGGAGCTGGACCACTGTGCTCTTCCCACAGCCACTGC
TGCCCACCAGAGCCAGCGTCTGG C/G CCTTCTTCACCTCCAGGCTCAGTCCCTGAAGCACTGGGATGTCCGGTCGGGTGGGATAGTTG
AATACAACTTCACCAAATGTGACATTTCCTTCCAATGTGTTCTGCAATGAGAAGAATAACAGTAAATTTGAATGCTGCAATACTGAAAAT
AAAGTGTATAGCTAACTCTCTCGATTACCAGGTGTCAGAAGATAATTA-3'
[Top]
RS ID:
2707943
Alleles:
C/G
Validation:
Details:
| Chromosome |
Reference Position |
| 7 |
87144640 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_000927  |
NP_000918  |
3 |
G [Gly] /
G [Gly]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TGTTGTTTAAAGGTTTGAAAAAACATGGCTTATAGTTGAGAATTAAATACATTCAGACATTTGGATGATGAAAACCTGAACTGAGCT
AAATGTGAAAGTGTGCTCACCACTTTCCCTGCCAAGGGGTCGTAGAACCGCTCCAGGAGCTGGACCACTGTGCTCTTCCCACAGCCACTG
CTGCCCACCAGAGCCAGCGTCTG C/G CCCTTCTTCACCTCCAGGCTCAGTCCCTGAAGCACTGGGATGTCCGGTCGGGTGGGATAGTT
GAATACAACTTCACCAAATGTGACATTTCCTTCCAATGTGTTCTGCAATGAGAAGAATAACAGTAAATTTGAATGCTGCAATACTGAAAA
TAAAGTGTATAGCTAACTCTCTCGATTACCAGGTGTCAGAAGATAATT-3'
[Top]
RS ID:
2235051
Alleles:
C/G
Validation:
Details:
| Chromosome |
Reference Position |
| 7 |
87133655 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_000927  |
NP_000918  |
3 |
G [Gly] /
G [Gly]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TAGAGATGKGGTTTCACCGTGTYRGCCAGGATGGTCTCMATCTGACCTTGTGATCTGCCCGCCTTGGCCTCYCAAAGTGCTGGGATT
ACAGGYGTGAGCCACCRYGCCYGTCCTACTGTGGAGCTTTTTATGGAAGAGGAATTAGGGAAAAGAACTATTATGAGAATTAATCTATGT
GATTATGGAATAGGTTGTCCAAGAAGCCCTGGACAAAGCCAGAGAWGGCCGCACCTGCATTGTGATTGCTCACCGCCTGTCCACCATCCA
GAATGCAGACTTAATAGTGGTGTTTCAGAATGG C/G AGARTCAAGGAGCATGGCAMGCATCAGCAGCTGCTGGCACAGAAAGGCATCT
ATTTTTCAATGGTCAGTGTCCAGGCTGGAACAAAGCGCCAGTGAACTCTGACTGTATGAGATGTYAAATACTTTTTAATATTTGTTTAGA
TATGACATTTATTCAAAGTTAAAAGCAAACACNNNNAGAATTWTGAAGAGGTATCTGTTTAACATTTCCTCAGTCAAGTTCAGAGTCTTC
AGAGACTTCRTAATTAAAGGAACAGAGTGAGAGACANNNNNNNNTCATCAAGTGGAGAGAAATCRTAGTTTAARCT-3'
[Top]
RS ID:
2235044
Alleles:
A/G
Validation:
Details:
| Chromosome |
Reference Position |
| 7 |
87145825 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_000927  |
NP_000918  |
3 |
P [Pro] /
P [Pro]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GAAGACCCCACCTCaaaaaaaaaaaaaaaaaaaaaaaGGAGTGTCAGCTTTCTAGCATTGTGATGGTAATGCTGTGCACATGTTTTG
TGTTTGTGCTTTCCAGAGTATTTTCAGCTGTTGTCTTTGGTGCCATGGCCGTGGGGCAAGTCAGTTCATTTGCTCCTGACTATGCCAAAG
CCAAAATATCAGCAGCCCACATCATCATGATCATTGAAAAAACCCCTTTGATTGACAGCTACAGCACGGAAGGCCTAATGCC A/G GTG
AGTTTGATGTTTCAACTGTTTGATCTACTCCTGACTCCTGAATGAAAGTATTTTAAGTGGAAACTTAATAAAATTTGTACTTTCAAATAT
GCTGATGATAAAATAAAACTTCCTAGATCATAGATTCCTTTCAATTACTGCTAATAATATACATCAACATTCAGTACTTTTACGTAGYAA
AGGTTATAGGGAAATAGGAATACTGCTCAC-3'
[Top]
RS ID:
2235039
Alleles:
A/G
Validation:
Details:
| Chromosome |
Reference Position |
| 7 |
87165854 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
1 |
V [Val] /
M [Met]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GGGGGTATAAGTATAAACAAAACTGACCCCATCGCTGCCCTCTTGGAGCTGAGAGTCTCATAAACAGCTTTAAGGTAATAAAATCAT
TTTMTGTGCCACAGGAT A/G TGAGTTGGTTTGATGACCCTAAAAACACCACTGGAGCATTGACTACCAGGCTCGCCAATGATGCTGCT
CAAGTTAAAGGGGTACGTGCCTCCTTTCTACTGGTRTTTGTCTTAATTGGCYATTTTGGACCCCAGCATGAAACTAATTTTCTCMTTAYG
GGTGTTAGTTATCATCATTAAGAAAATGTTGAATAAATATCTAACCTACGAATATATCACATGCTTTTTGTAGCAACATGTTAACTATTT
AAACATTATATACTGTAGAGCATATAGATAACTTATAAACCATTTGCTATTGCTGTTATT-3'
[Top]
RS ID:
2235036
Alleles:
A/G
Validation:
Details:
| Chromosome |
Reference Position |
| 7 |
87175271 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
1 |
A [Ala] /
T [Thr]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-AGATTTGATGGTTTTACAATGCCCACAGCATTGGTTCAGTAAATATATGTTGAATGGTTAAGTTTCTTCAGGTAATTGTTAATGTAT
TCAAAAACCAAATTTCTCTCTCTTTAGGCCAGAAAAGGTCGGACCACCATTGTGATAGCTCATCGTTTGTCTACAGTTCGTAATGCTGAC
GTCATC A/G CTGGTTTCGATGATGGAGTCATTGTGGAGAAAGGAAATCATGATGAACTCATGAAAGAGAAAGGCATTTACTTCAAACT
TGTCACAATGCAGGTATAGTTTAACTTCAGAATTTTCCTAAGTCATCTCAGTGATAAACTGATTTTGCATTTAATGCTAMAAATAAATAT
TATTTGATTTGATTACCTTACAAAGTAGGAAACAACACCTGGGGGATTCAGGATGAGACCAGTGTTTAAGATTTTTTTTCTCTCTTGAAA
GAGGGGAAAATAAAGAAGGATAAACAGATAAAAAAATTAAAAGGTTTCAAGGTGAGTTATCCGTTA-3'
[Top]
RS ID:
2235022
Alleles:
A/G
Validation:
Details:
| Chromosome |
Reference Position |
| 7 |
87190677 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_000927  |
NP_000918  |
3 |
E [Glu] /
E [Glu]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-CAGACCAAAGGCAAGTAAAAGACAGATTTTGCTCTACACATGCATTAATGTATAAGCAGCATTTATGTATACATTTATTTTTACTTT
ACAAAAGATAAAATTAACGTGTTTTTTTCATGATCCAAAATTGTATTTTTAAACAGATACTATCTTCATTTACTGATAAAGA A/G CTC
TTAGCGTATGCAAAAGCTGGAGCAGTAGCTGAAGAGGTCTTGGCAGCAATTAGAACTGTGATTGCATTTGGAGGACAAAAGAAAGAACTT
GAAAGGTTTGAGTTTCTTTTTTAAATGGATAGATATGTTAAATTCTGTCTTCTCAAATGCCCTTCAGATTGACAGTGTTATTTATAAGCA
TTTTCTCCCATATATATGTTTTCTTAAATAGCTTAATGGATRTATTACAGCATAACTAATATTTTGGAGAAGTTGCAATTCTAATTGTAC
TTTTCTTTTATCTGCTAATTCAAAGAGTTTTCTAGATGGGCAATAACATAAAAATAGTTTCCAAAGACTGAAATGTATTTTATACCTCTG
ATTTTTTTCCTCTATCA-3'
[Top]
RS ID:
2235012
Alleles:
C/G
Validation:
Details:
| Chromosome |
Reference Position |
| 7 |
87178727 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_000927  |
NP_000918  |
3 |
L [Leu] /
L [Leu]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-ASCTCTAGCAGTATCAACTGGTCGTAGATACATTTTTAAAAACTGAGGTTGGTTATTGTGTTAAATAAGATTTAAAGAACTGGACCT
GTATTACTTGTGAGACTTGRGCTGTGTAYAGGATTCCTTACCAATTTAAAATAKGAGCTGAGATAGCTTGTCCTTATGCTAAATCATTCT
GGGTTTTCTGTGGTAGAAATTTGACACCCTGGTTGGAGAGAGAGGGGCCCAGTTGAGTGGTGGGCAGAAGCAGAGGATYGCCATTGCACG
TGCCCTGGTTCGCAACCCCAAGATCCTCCTGCT C/G GATGAGGCCACGTCAGCCTTGGACACAGAAAGCRAAGCAGTGGTTCAGGTGG
CTCTGGATAAGGTCAGTGAGGCTTAGTTCAAACCAACCTGATTTATAARCATAAGAACATTCTACTACTAATTCTTGTTAATATTGGTCT
TAGAAAAGGAAATTTCTGATAGCTTCTAGGTGATTCCTTCAGCTATTAAAATAAAAKCATTGGGCCTCTTTGAAATCTTTTTCTATTTGT
TTGTTTTATTGTTCAATTTCTATTTATTTCTCTGATCTTATTTTAAATGTTGATGAATACATTTTCAT-3'
[Top]
RS ID:
2229109
Alleles:
A/G
Validation:
Details:
| Chromosome |
Reference Position |
| 7 |
87179809 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
2 |
S [Ser] /
I [Ile]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-AAAAAATTGCTGTCACTATCTCAGTAGCCTGATGGTTTTTCTTCACATTCCTCAGGTATTCTTTTCTGTATTAATTGGGGCTTTTAG
TGTTGGACAGGCATCTCCAAGCATTGAAGCATTTGCAAATGCAAGAGGAGCAGCTTATGAAATCTTCAAGATAATTGATAATGTAAGTCT
GAGTTGGCCATCTATCCACCTATCTAAAAGATTGTCCAGTTAAGTCAATTTCTTTGTCACTTTATCCAGCTCTCCACAAAATATCACTAA
AAGTAGTTATTGTAACCTAGTAATCTCTTAAAATTTGATTCTGTTTAGAAGCCAAGTATTGACAGCTATTCGAAGAGTGGGCACAAACCA
GATAATATTAAGGGAAATTTGGAATTCAGAAATGTTCACTTCA A/G TTACCCATCTCGAAAAGAAGTTAAGGTACAGTGATAAATGAT
TAATCAACAATTAATCTATTGAATGAAGAGTTTCTGATGTTTTCTTGTAGAGATTATAAAAAAGTGCATGTATATTTAAACCTAGTGAAC
AGTCAGTTCCTATATCCTGTGTCTGTGAATTGCCTTGAAGTTTTTTTCTCACTCGTCCTGGTAGATCTTGAAGGGTCTGAACCTGAAGGT
GCAGAGTGGGCAGACGGTGGCCCTGGTTGGAAACAGTGGCTGTGGGAAGAGCACAACAGTCCAGCTGATGCAGAGGCTCTATGACCCCAC
AGAGGGGATGGTGAGATGACCCATGCGAGCTAGACCCTGCGGTGATCAGCAGTCACATTGCACATCTTTCTGATGTTGCCCTTTCAAT-3
'
[Top]
RS ID:
2229107
Alleles:
A/T
Validation:
Details:
| Chromosome |
Reference Position |
| 7 |
87138659 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
1 |
S [Ser] /
T [Thr]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-AACTTTTCCTTAATCTCACAGTAACTTGGCAGTTTCAGTGTAAGAAATAATGATGTTAATTGTGCTACATTCAAAGTGTGCTGGTCC
TGAAGTTGATCTGTGAACTCTTGTTTTCAGCTGCTTGATGGCAAAGAAATAAAGCGACTGAATGTTCAGTGGCTCCGAGCACACCTGGGC
ATCGTGTCCCAGGAGCCCATCCTGTTTGACTGCAGCATTGCTGAGAACATTGCCTATGGAGACAACAGCCGGGTGGTG A/T CACAGGA
AGAGATCGTGAGGGCAGCAAAGGAGGCCAACATACATGCCTTCATCGAGTCACTGCCTAATGTAAGTCTCTCTTCAAATAAACAGCCTGG
GAGCATGTGGCAGCCTCTCTGGCCTATAGTTTGATTTATAAGGGGCTGGTTTCCCAGAAGTGAAGAGAAATTAGCAACCAAATCACACCC
TTACCTGTATACAAGCATCTGGCCACACTTCCTGTTTGGGTTAGTTGTTACCTTTACCTGATCACCTG-3'
[Top]
RS ID:
2032582
Alleles:
A/G/T
Validation:
- By frequency
- By 2 hit 2 allele
- By cluster
Details:
| Chromosome |
Reference Position |
| 7 |
87160618 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
1 |
S [Ser] /
A [Ala]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TAAAATAATGAATATAGTCTCATGAAGGTGAGTTTTCAGAAAATAGAAGCATGAGTTGTGAAGATAATATTTTTAAAATTTCTCTAA
TTTGTTTTGTTTTGCAGGCTRTAGGTTCCAGGCTTGCTGTAATTACCCAGAATATAGCAAATCTTGGGACAGGAATAATTATATCCTTCA
TCTATGGTTGGCAACTAACACTGTTACTCTTAGCAATTGTACCCATCATTGCAATAGCAGGAGTTGTTGAAATGAAAATGTTGTCTGGAC
AAGCACTGAAAGATAAGAAAGAACTAGAAGGT A/G/T CTGGGAAGGTGAGTCAAACTAAATATGATTGATTAATTAAGTAGAGTAAAG
TATTCYAATCAGTGTTATTTTGTYACTCCCTACTGCTTACTATGCTCTAAGAATGTGTTTATAACCATTCCTCAAAGCAATCTTTTTCAT
GCTTATTCAGTAAATTAGAAACTTACAGAAAGTAGCAAAGCCAGTTCTTGGACTCAAAAACTGATAATTAACTTTAACAGACTTTTTCAG
TTTTCAGGCCATTGTCTTCACACTGTTCTTCCTTCCTCCCCACTTTCCTCCTTCCCTTAGTTATKTTCT-3'
[Top]
RS ID:
2032581
Alleles:
A/G
Validation:
Details:
| Chromosome |
Reference Position |
| 7 |
87160810 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
1 |
I [Ile] /
V [Val]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-AATAGAAGCATGAGTTGTGAAGATAATATTTTTAAAATTTCTCTAATTTGTTTTGTTTTGCAGGCT A/G TAGGTTCCAGGCTTGC
TGTAATTACCCAGAATATAGCAAATCTTGGGACAGGAATAATTATATCCTTCATCTATGGTTGGCAACTAACACTGTTACTCTTAGCAAT
TGTACCCATCATTGCAATAGCAGGAGTTGTTGAAATGAAAATGTTGTCTGGACAAGCACTGAAAGATAAGAAAGAACTAGAAGGTKCTGG
GAAGGTGAGTCAAACTAAATATGATTGATTAATTAAGTAGAGTAAAGTATTCYAATCAGTGTTATTTTGTYACTCCCTACTGCTTACTAT
GCTCTAAGAATGTGTTTATAACCATTCCTCAAAGCAATCTTTTTCATGCTTATTCAGTAAATTAGAAACTTACAGAAAGTAGCAAAGCCA
GTTCTTGGACTCAAAAACTGATA-3'
[Top]
RS ID:
1202183
Alleles:
A/G
Validation:
Details:
| Chromosome |
Reference Position |
| 7 |
87214983 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
2 |
N [Asn] /
S [Ser]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-CATTAAATACTTTTACAGTTTCCCAGAATGTCCCATCCTTCTCATTAGACTTCATATAAGAAGACAGACCAAGTCCAATATGAAGAA
TTAGGCCAGAACTCAATGGAAGAATCAAATGTCCATTTCTAATTagactattgcaataatttagcaaaggtagagggtgtcttggactag
gttggtatcagtagtagtctgaaaaatgtttggattttggatatattttgaaggaaaagcaaaTCTTCCATGAAACTGTACTAATTTTTC
CTCTGCTATTCTTTTTTCTCTCTTTTTAGTTTCGCTATTCAA A/G TTGGCTTGACAAGTTGTATATGGTGGTGGGAACTTTGGCTGCC
ATCATCCATGGGGCTGGACTTCCTCTCATGATGCTGGTGTTTGGAGAAATGACAGATATCTTTGCAAATGCAGGAAATTTAGAAGATCTG
ATGTCAAACATCACTAATAGAAGTAAGTATTGTTTGTGTACCAATTTTATTGGAAACTTGCAGCAAA-3'
[Top]
RS ID:
1128503
Alleles:
C/T
Validation:
- By frequency
- By 2 hit 2 allele
- By cluster
Details:
| Chromosome |
Reference Position |
| 7 |
87179601 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_000927  |
NP_000918  |
3 |
G [Gly] /
G [Gly]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TTGTCCAGTTAAGTCAATTTCTTTGTCACTTTATCCAGCTCTCCACAAAATATCACTAAAAGTAGTTATTGTAACCTAGTAATCTCT
TAAAATTTGATTCTGTTTAGAAGCCAAGTATTGACAGCTATTCGAAGAGTGGGCACAAACCAGATAATATTAAGGGAAATTTGGAATTCA
GAAATGTTCACTTCAGTTACCCATCTCGAAAAGAAGTTAAGGTACAGTGATAAATGATTAATCAACAATTAATCTATTGAATGAAGAGTT
TCTGATGTTTTCTTGTAGAGATTATAAAAAAGTGCATGTATATTTAAACCTAGTGAACAGTCAGTTCCTATATCCTGTGTCTGTGAATTG
CCTTGAAGTTTTTTTCTCACTCGTCCTGGTAGATCTTGAAGGG C/T CTGAACCTGAAGGTGCAGAGTGGGCAGACGGTGGCCCTGGTT
GGAAACAGTGGCTGTGGGAAGAGCACAACAGTCCAGCTGATGCAGAGGCTCTATGACCCCACAGAGGGGATGGTGAGATGACCCATGCGA
GCTAGACCCTGCGGTGATCAGCAGTCACATTGCACATCTTTCTGATGTTGCCCTTTCAATTACAAATGTATGAAAGTCACACTTACTTTT
TATTCCAGGTCAGTGTTGATGGACAGGATATTAGGACCATAAATGTAAGGTTTCTACGGGAAATCATTGGTGTGGTGAGTCAGGAACCTG
TATTGTTTGCCACCACGATAGCTGAAAACATTCGCTATGGCCGTGAAAATGTCACCATGGATGAGATTGAGAAAGCTGTCAAGGAAGC-3
'
[Top]
RS ID:
1128502
Alleles:
A/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 7 |
87195533 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_000927  |
NP_000918  |
3 |
G [Gly] /
G [Gly]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TTCATGCTATAATGCGACAGGAGATAGGCTGGTTTGATGTGCACGATGTTGGGGAGCTTAACACCCGACTTACAGATGATGTCTCTA
AGATTAATGAAGT A/T ATTGGTGACAAAATTGGAATGTTCTTTCAGTCAATGGCAACATTTTTCACTGGGTTTATAGTAGGATTTACA
CGTGGTTGGAAGCTAACCCTTGTGATTT-3'
[Top]
RS ID:
1128501
Alleles:
G/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 7 |
87195534 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
2 |
G [Gly] /
V [Val]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TTTCATGCTATAATGCGACAGGAGATAGGCTGGTTTGATGTGCACGATGTTGGGGAGCTTAACACCCGACTTACAGATGATGTCTCT
AAGATTAATGAAG G/T TATTGGTGACAAAATTGGAATGTTCTTTCAGTCAATGGCAACATTTTTCACTGGGTTTATAGTAGGATTTAC
ACGTGGTTGGAAGCTAACCCTTGTGATT-3'
[Top]
RS ID:
1128500
Alleles:
C/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 7 |
87195548 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_000927  |
NP_000918  |
3 |
S [Ser] /
S [Ser]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GATGTGCACGATGTTGGGGAGCTTAACACCCGACTTACAGATGATGTCTC C/T AAGATTAATGAAGGAATTGGTGACAAAATTGG
AATGTTCTTTCAGTCAAT-3'
[Top]
RS ID:
1045642
Alleles:
C/T
Validation:
- By cluster
- By frequency
- By submitter
- By 2 hit 2 allele
Details:
| Chromosome |
Reference Position |
| 7 |
87138645 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000927  |
NP_000918  |
3 |
I [Ile] /
M [Met]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-CTCACAGTAACTTGGCAGTTTCAGTGTAAGAAATAATGATGTTAATTGTGCTACATTCAAAGTGTGCTGGTCCTGAAGTTGATCTGT
GAACTCTTGTTTTCAGCTGCTTGATGGCAAAGAAATAAAGCGACTGAATGTTCAGTGGCTCCGAGCACACCTGGGCATCGTGTCCCAGGA
GCCCATCCTGTTTGACTGCAGCATTGCTGAGAACATTGCCTATGGAGACAACAGCCGGGTGGTGTCACAGGAAGAGAT C/T GTGAGGG
CAGCAAAGGAGGCCAACATACATGCCTTCATCGAGTCACTGCCTAATGTAAGTCTCTCTTCAAATAAACAGCCTGGGAGCATGTGGCAGC
CTCTCTGGCCTATAGTTTGATTTATAAGGGGCTGGTTTCCCAGAAGTGAAGAGAAATTAGCAACCAAATCACACCCTTACCTGTATACAA
GCATCTGGCCACACTTCCTGTTTGGGTTAGTTGTTACCTTTACCTGATCACCTGACCCTCCTTGTGAG-3'