Showing coding SNPs for CCKAR (Gene ID: 886)
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:
116476903
Alleles:
A/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 4 |
26491831 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000730  |
NP_000721  |
2 |
L [Leu] /
H [His]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TCTTCTCCAAACTTCTGAACATATGACTTTATCTAGCCTTGTCTCACAATGACTTGGTTATATATATTTTTTATCAGCCTTGCCTTT
GCTGATTTCTCCCACAACTCAATAGTTTCCTGAATTAAAATAACAGCTTCCGACACTTACCTTTGGAAGGACGGGGCTGATCCAAGCAGA
AAAGCGTCTCATTTTCGAGCCCG A/T GTTCACAGGGAGGAGTGATGTTGCTTCCATTCACAAGAAGGCTGTCAACCACATCCATCCTT
GCCTGCTGCTTTCCACCAAGTGCTGGAGAGCTGGTGAATTGCTCACTCCCGGCTCATTCCTCTAATGACCGAAGCGTCTCGCAGATGCAA
CCTGCCGTGGAGGAGCAGGGAGGGAGTGATTTCCAGGTGTGGGCTTTT-3'
[Top]
RS ID:
115609834
Alleles:
G/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 4 |
26491830 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_000730  |
NP_000721  |
3 |
L [Leu] /
L [Leu]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-CTCTTCTCCAAACTTCTGAACATATGACTTTATCTAGCCTTGTCTCACAATGACTTGGTTATATATATTTTTTATCAGCCTTGCCTT
TGCTGATTTCTCCCACAACTCAATAGTTTCCTGAATTAAAATAACAGCTTCCGACACTTACCTTTGGAAGGACGGGGCTGATCCAAGCAG
AAAAGCGTCTCATTTTCGAGCCC G/T AGTTCACAGGGAGGAGTGATGTTGCTTCCATTCACAAGAAGGCTGTCAACCACATCCATCCT
TGCCTGCTGCTTTCCACCAAGTGCTGGAGAGCTGGTGAATTGCTCACTCCCGGCTCATTCCTCTAATGACCGAAGCGTCTCGCAGATGCA
ACCTGCCGTGGAGGAGCAGGGAGGGAGTGATTTCCAGGTGTGGGCTTT-3'
[Top]
RS ID:
115488558
Alleles:
C/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 4 |
26483526 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000730  |
NP_000721  |
1 |
A [Ala] /
T [Thr]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-CCCGCCTTCCTCCTCCTCCCCCACCTCTCCCCTCGCCCCTGGGGGACCAGGATTGGGGCAGCAGGGGAAGGTGGCCATGAAGCCGAG
GCGGAAGCGTTTGTTCATGAAGCAGTAGATGATGGGGTTGACGCAGGAGGAGGTGTAGGACAGGAGGAGGATGAAGGAAATGGGGGTTCC
TGAGAGGCGGCGCTCTGCGGAGG C/T GGTGTCGTAGGCCCGCCAGGCGTTGGCGCTGAAGATGGGCATCCAGCACAGGAAGAAGAGGA
CCACGATGACGATGAGCATGCGGATCACCCTTTTCTTGGCCATCAGGTTGGCTGCGGAGCTGTTACTCCGGATGCGGTTGGCCCTGCTGC
TGCTGCCGGTGGACAGCTGCCGGAGCTCCAGCTTCCTCGGGGGCCTGG-3'
[Top]
RS ID:
115316249
Alleles:
G/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 4 |
26483527 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_000730  |
NP_000721  |
3 |
T [Thr] /
T [Thr]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-CCGCCTTCCTCCTCCTCCCCCACCTCTCCCCTCGCCCCTGGGGGACCAGGATTGGGGCAGCAGGGGAAGGTGGCCATGAAGCCGAGG
CGGAAGCGTTTGTTCATGAAGCAGTAGATGATGGGGTTGACGCAGGAGGAGGTGTAGGACAGGAGGAGGATGAAGGAAATGGGGGTTCCT
GAGAGGCGGCGCTCTGCGGAGGC G/T GTGTCGTAGGCCCGCCAGGCGTTGGCGCTGAAGATGGGCATCCAGCACAGGAAGAAGAGGAC
CACGATGACGATGAGCATGCGGATCACCCTTTTCTTGGCCATCAGGTTGGCTGCGGAGCTGTTACTCCGGATGCGGTTGGCCCTGCTGCT
GCTGCCGGTGGACAGCTGCCGGAGCTCCAGCTTCCTCGGGGGCCTGGT-3'
[Top]
RS ID:
115070386
Alleles:
A/G
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 4 |
26483779 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_000730  |
NP_000721  |
3 |
S [Ser] /
S [Ser]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-AAGAAGAGGACCACGATGACGATGAGCATGCGGATCACCCTTTTCTTGGCCATCAGGTTGGCTGCGGAGCTGTTACTCCGGATGCGG
TTGGCCCTGCTGCTGCTGCCGGTGGACAGCTGCCGGAGCTCCAGCTTCCTCGGGGGCCTGGTCTTTTGCAGGTAACACCCATCGCTGTCC
TCATATTTGCCGCTGCTGGTGGT A/G CTAGGTTTCCTTTCTGGGTGGGCAAGAGACATCACTCATTGCTGGGGATGGGTCATGCCCGG
TAGAAGGCATGGAGCCCCCACTCCCCTCCATCAAGAAGTCCAAACCAAACAGGAACTGAGAAATGGCAGACAACCTGGCCTTACACTGAT
ATGGGTAAGCATTGATCTATACTAGTTCTTCCCTTCAATGAAATGCTG-3'
[Top]
RS ID:
115021107
Alleles:
A/G
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 4 |
26487361 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000730  |
NP_000721  |
2 |
P [Pro] /
L [Leu]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-CTGATCCCCCAACCACTCTGGGCAAGGCATCTCAGTTTTTCATGATATTGCAAAATTACATCAAGCTGTATTTTTAAAAATAAACAA
TGCAACCTTACCAGGACTGCTGCATAACATCATTTGGCAGTAGAAAGCGGCACATATTCGCGGTCTGGTTGTTATTTTTGGTAAAAGGCA
CCAAGTTGCTATAAATGGGGTAC A/G GAGTCATGATGGTAAAGGAAAGGCACCAGGTAGCAGCAATCACCTTCAAAGCATGGGATTTT
GTCTGCCAGACCCGGGACTGTAAGGGTTTGCAAATCGCACCATATCTCTCTAGAGATATGGCTACCAGATTAAAGGTAGATACACTCACA
GAGGTGCCTGGGAAAGGAACAAAGAAGCCGGTTATGTTGACTCTGAAA-3'
[Top]
RS ID:
114925681
Alleles:
C/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 4 |
26483513 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000730  |
NP_000721  |
2 |
R [Arg] /
H [His]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-AGGCTCCTGTGGTCCCGCCTTCCTCCTCCTCCCCCACCTCTCCCCTCGCCCCTGGGGGACCAGGATTGGGGCAGCAGGGGAAGGTGG
CCATGAAGCCGAGGCGGAAGCGTTTGTTCATGAAGCAGTAGATGATGGGGTTGACGCAGGAGGAGGTGTAGGACAGGAGGAGGATGAAGG
AAATGGGGGTTCCTGAGAGGCGG C/T GCTCTGCGGAGGCGGTGTCGTAGGCCCGCCAGGCGTTGGCGCTGAAGATGGGCATCCAGCAC
AGGAAGAAGAGGACCACGATGACGATGAGCATGCGGATCACCCTTTTCTTGGCCATCAGGTTGGCTGCGGAGCTGTTACTCCGGATGCGG
TTGGCCCTGCTGCTGCTGCCGGTGGACAGCTGCCGGAGCTCCAGCTTC-3'
[Top]
RS ID:
114922909
Alleles:
A/G
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 4 |
26487431 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000730  |
NP_000721  |
1 |
W [Trp] /
R [Arg]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TTTTTAAAAATAAACAATGCAACCTTACCAGGACTGCTGCATAACATCATTTGGCAGTAGAAAGCGGCACATATTCGCGGTCTGGTT
GTTATTTTTGGTAAAAGGCACCAAGTTGCTATAAATGGGGTACGGAGTCATGATGGTAAAGGAAAGGCACCAGGTAGCAGCAATCACCTT
CAAAGCATGGGATTTTGTCTGCC A/G GACCCGGGACTGTAAGGGTTTGCAAATCGCACCATATCTCTCTAGAGATATGGCTACCAGAT
TAAAGGTAGATACACTCACAGAGGTGCCTGGGAAAGGAACAAAGAAGCCGGTTATGTTGACTCTGAAATCCAAAGTTTATTTGCACATTA
GCTTGAATATATCTGATCTGCACAGGTTTGATATCAAAGGAAAACGCT-3'
[Top]
RS ID:
114451798
Alleles:
C/G
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 4 |
26483632 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_000730  |
NP_000721  |
3 |
L [Leu] /
L [Leu]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-AAGCAGTAGATGATGGGGTTGACGCAGGAGGAGGTGTAGGACAGGAGGAGGATGAAGGAAATGGGGGTTCCTGAGAGGCGGCGCTCT
GCGGAGGCGGTGTCGTAGGCCCGCCAGGCGTTGGCGCTGAAGATGGGCATCCAGCACAGGAAGAAGAGGACCACGATGACGATGAGCATG
CGGATCACCCTTTTCTTGGCCAT C/G AGGTTGGCTGCGGAGCTGTTACTCCGGATGCGGTTGGCCCTGCTGCTGCTGCCGGTGGACAG
CTGCCGGAGCTCCAGCTTCCTCGGGGGCCTGGTCTTTTGCAGGTAACACCCATCGCTGTCCTCATATTTGCCGCTGCTGGTGGTGCTAGG
TTTCCTTTCTGGGTGGGCAAGAGACATCACTCATTGCTGGGGATGGGT-3'
[Top]
RS ID:
114419333
Alleles:
A/G
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 4 |
26491027 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_000730  |
NP_000721  |
3 |
T [Thr] /
T [Thr]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-CCAGAAAGAGTCACCAGCAGCAACTTACCCATGAAGTAGGTGGTGGTCTTGCAAACGGCGCTCCCGAAGATGAAATCCTTGAGCAGA
TTGGGGATGAGGTTGAACGGCATGCAGAAGAGACAGAGCATGAGGTCGCTGACAGCCAGGGAGAGGAGGAAGATGTTGGTGACCGTCCGC
ATCCGCTTGTTCCGAATCAGCAC A/G GTGATGACCAGCGTGTTTCCCAGCACGCTGAGCAGGAATATCAAGGAGTACAAGAGAATCTG
CACCGCTGGCTGCCACTCTGCAGAGAGAAACAGGAGCAAGACGGAGGGATGGAGGTGATGACAGCAGAATGCTAAAACCGAAGCCAAGGG
TGAATTCCTGCCGATTTTCCCCCCACCGGGGTGTACATCACTGGACCC-3'
[Top]
RS ID:
114338993
Alleles:
G/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 4 |
26483664 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000730  |
NP_000721  |
1 |
R [Arg] /
S [Ser]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GGTGTAGGACAGGAGGAGGATGAAGGAAATGGGGGTTCCTGAGAGGCGGCGCTCTGCGGAGGCGGTGTCGTAGGCCCGCCAGGCGTT
GGCGCTGAAGATGGGCATCCAGCACAGGAAGAAGAGGACCACGATGACGATGAGCATGCGGATCACCCTTTTCTTGGCCATCAGGTTGGC
TGCGGAGCTGTTACTCCGGATGC G/T GTTGGCCCTGCTGCTGCTGCCGGTGGACAGCTGCCGGAGCTCCAGCTTCCTCGGGGGCCTGG
TCTTTTGCAGGTAACACCCATCGCTGTCCTCATATTTGCCGCTGCTGGTGGTGCTAGGTTTCCTTTCTGGGTGGGCAAGAGACATCACTC
ATTGCTGGGGATGGGTCATGCCCGGTAGAAGGCATGGAGCCCCCACTC-3'
[Top]
RS ID:
104893833
Alleles:
C/G
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 4 |
26491829 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000730  |
NP_000721  |
1 |
G [Gly] /
R [Arg]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-ATGCTGGAGTGAGTGAGGTGAACTCAAGTCGCCTTTAGGAATGGCTGAAAAAGCCCACACCTGGAAATCACTCCCTCCCTGCTCCTC
CACGGCAGGTTGCATCTGCGAGACGCTTCGGTCATTAGAGGAATGAGCCGGGAGTGAGCAATTCACCAGCTCTCCAGCACTTGGTGGAAA
GCAGCAGGCAAGGATGGATGTGGTTGACAGCCTTCTTGTGAATGGAAGCAACATCACTCCTCCCTGTGAACTC C/G GGCTCGAAAATG
AGACGCTTTTCTGCTTGGATCAGCCCCGTCCTTCCAAAGGTAAGTGTCGGAAGCTGTTATTTTAATTCAGGAAACTATTGAGTTGTGGGA
GAAATCAGCAAAGGCAAGGCTGATAAAAAATATATATAACCAAGTCATTGTGAGACAAGGCTAGATAAAGTCATATGTTCAGAAGTTTGG
AGAAGAGATTAAAAAGCAGAATAGAGTCAAATATTCTTATTGTCCCCCATGGGGGAGT-3'
[Top]
RS ID:
79754979
Alleles:
C/G
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 4 |
26487327 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_000730  |
NP_000721  |
3 |
T [Thr] /
T [Thr]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GCTAGAAAGACCTTCTCAAAACGTCTCCAGGAAACTGATCCCCCAACCACTCTGGGCAAGGCATCTCAGTTTTTCATGATATTGCAA
AATTACATCAAGCTGTATTTTTAAAAATAAACAATGCAACCTTACCAGGACTGCTGCATAACATCATTTGGCAGTAGAAAGCGGCACATA
TTCGCGGTCTGGTTGTTATTTTT C/G GTAAAAGGCACCAAGTTGCTATAAATGGGGTACGGAGTCATGATGGTAAAGGAAAGGCACCA
GGTAGCAGCAATCACCTTCAAAGCATGGGATTTTGTCTGCCAGACCCGGGACTGTAAGGGTTTGCAAATCGCACCATATCTCTCTAGAGA
TATGGCTACCAGATTAAAGGTAGATACACTCACAGAGGTGCCTGGGAA-3'
[Top]
RS ID:
79677636
Alleles:
C/G
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 4 |
26483296 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_000730  |
NP_000721  |
3 |
S [Ser] /
S [Ser]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-CCTGGCGGGCCTACGACACCGCCTCCGCAGAGCGCCGCCTCTCAGGAACCCCCATTTCCTTCATCCTCCTCCTGTCCTACACCTCCT
CCTGCGTCAACCCCATCATCTACTGCTTCATGAACAAACGCTTCCGCCTCGGCTTCATGGCCACCTTCCCCTGCTGCCCCAATCCTGGTC
CCCCAGGGGCGAGGGGAGAGGTGGGGGAGGAGGAGGAAGGCGGGACCACAGGAGCCTCTCTGTCCAGGTTCTC C/G TACAGCCATATG
AGTGCCTCGGTGCCACCCCAGTGAGATGTCCCCTGACCCTCCACCGCAGAAGGAAGGCAGGGAGGAGGCAGAGAAGAAAGAACGGAAGAA
GAGATCAGGAAGAGAAGGAGCAGAGCTGATGGAGAAGGAAGGCTCCATCTCCAGTGGGAACTCTTCAAGGTCTGCTTTTCATCCTTCATC
TGGATTCCAGAGCACTGCTCCAGTGGGGCCATGATTGGTTTCTAGGCAGTTCAAAGCA-3'
[Top]
RS ID:
78496927
Alleles:
A/G
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 4 |
26487435 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_000730  |
NP_000721  |
3 |
R [Arg] /
R [Arg]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TGAGAATAAATCATCTTTTAAAAATATACATACACAATATTTCTTTACCTTCCAAGCGTTTTCCTTTGATATCAAACCTGTGCAGAT
CAGATATATTCAAGCTAATGTGCAAATAAACTTTGGATTTCAGAGTCAACATAACCGGCTTCTTTGTTCCTTTCCCAGGCACCTCTGTGA
GTGTATCTACCTTTAATCTGGTAGCCATATCTCTAGAGAGATATGGTGCGATTTGCAAACCCTTACAGTCCCG A/G GTCTGGCAGACA
AAATCCCATGCTTTGAAGGTGATTGCTGCTACCTGGTGCCTTTCCTTTACCATCATGACTCCGTACCCCATTTATAGCAACTTGGTGCCT
TTTACCAAAAATAACAACCAGACCGCGAATATGTGCCGCTTTCTACTGCCAAATGATGTTATGCAGCAGTCCTGGTAAGGTTGCATTGTT
TATTTTTAAAAATACAGCTTGATGTAATTTTGCAATATCATGAAAAACTGAGATGCCT-3'
[Top]
RS ID:
76530633
Alleles:
G/T
Validation:
Details:
| Chromosome |
Reference Position |
| 4 |
26490969 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000730  |
NP_000721  |
1 |
A [Ala] /
S [Ser]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TGATGTACACCCCGGTGGGGGGAAAATCGGCAGGAATTCACCCTTGGCTTCGGTTTTAGCATTCTGCTGTCATCACCTCCATCCCTC
CGTCTTGCTCCTGTTTCTCTCTGCAGAGTGGCAGCCAGCGGTGCAGATTCTCTTGTACTCCTTGATATTCCTGCTCAGCGTGCTGGGAAA
CACGCTGGTCATCACCGTGCTGATTCGGAACAAGCGGATGCGGACGGTCACCAACATCTTCCTCCTCTCCCTG G/T CTGTCAGCGACC
TCATGCTCTGTCTCTTCTGCATGCCGTTCAACCTCATCCCCAATCTGCTCAAGGATTTCATCTTCGGGAGCGCCGTTTGCAAGACCACCA
CCTACTTCATGGGTAAGTTGCTGCTGGTGACTCTTTCTGGAGCTTGCCCCAGACCCCACTCAGCCCCAGACCTTCCCAAACCTCTGACAA
TCACAGCAAAGGAGCCCTGCTGAGGGCTGAATCACAGAACATCAGGCTGTGCATGGCT-3'
[Top]
RS ID:
76394294
Alleles:
C/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 4 |
26483364 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000730  |
NP_000721  |
1 |
G [Gly] /
R [Arg]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-CTGGGGTGGCACCGAGGCACTCATATGGCTGTACGAGAACCTGGACAGAGAGGCTCCTGTGGTCCCGCCTTCCTCCTCCTCCCCCAC
CTCTCCCCTCGCCC C/T TGGGGGACCAGGATTGGGGCAGCAGGGGAAGGTGGCCATGAAGCCGAGGCGGAAGCGTTTGTTCATGAAGC
AGTAGATGATGGGGTTGACGCAGGAGGAGG-3'
[Top]
RS ID:
74671182
Alleles:
C/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 4 |
26487460 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000730  |
NP_000721  |
2 |
A [Ala] /
V [Val]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-CCTTAAACCCTTTCTGGAACAAAGCTGAGAATAAATCATCTTTTAAAAATATACATACACAATATTTCTTTACCTTCCAAGCGTTTT
CCTTTGATATCAAACCTGTGCAGATCAGATATATTCAAGCTAATGTGCAAATAAACTTTGGATTTCAGAGTCAACATAACCGGCTTCTTT
GTTCCTTTCCCAGGCACCTCTGTGAGTGTATCTACCTTTAATCTGGTAGCCATATCTCTAGAGAGATATGGTG C/T GATTTGCAAACC
CTTACAGTCCCGGGTCTGGCAGACAAAATCCCATGCTTTGAAGGTGATTGCTGCTACCTGGTGCCTTTCCTTTACCATCATGACTCCGTA
CCCCATTTATAGCAACTTGGTGCCTTTTACCAAAAATAACAACCAGACCGCGAATATGTGCCGCTTTCTACTGCCAAATGATGTTATGCA
GCAGTCCTGGTAAGGTTGCATTGTTTATTTTTAAAAATACAGCTTGATGTAATTTTGC-3'
[Top]
RS ID:
74385997
Alleles:
C/T
Validation:
Details:
| Chromosome |
Reference Position |
| 4 |
26490914 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000730  |
NP_000721  |
2 |
N [Asn] /
S [Ser]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-CACACAGCCATGCACAGCCTGATGTTCTGTGATTCAGCCCTCAGCAGGGCTCCTTTGCTGTGATTGTCAGAGGTTTGGGAAGGTCTG
GGGCTGAGTGGGGTCTGGGGCAAGCTCCAGAAAGAGTCACCAGCAGCAACTTACCCATGAAGTAGGTGGTGGTCTTGCAAACGGCGCTCC
CGAAGATGAAATCCTTGAGCAGA C/T TGGGGATGAGGTTGAACGGCATGCAGAAGAGACAGAGCATGAGGTCGCTGACAGCCAGGGAG
AGGAGGAAGATGTTGGTGACCGTCCGCATCCGCTTGTTCCGAATCAGCACGGTGATGACCAGCGTGTTTCCCAGCACGCTGAGCAGGAAT
ATCAAGGAGTACAAGAGAATCTGCACCGCTGGCTGCCACTCTGCAGAG-3'
[Top]
RS ID:
61730704
Alleles:
G/T
Validation:
Details:
| Chromosome |
Reference Position |
| 4 |
26491793 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000730  |
NP_000721  |
1 |
P [Pro] /
S [Ser]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-AGGCTTTGACACTTGTAGTCCCTCTTGCTTCACTCAGCTTTTCCTCCCCTGCTTTTGTTCCCCCAAGTCCTATTCATGAATGCCCAA
CTCCCCCATGGGGGACAATAAGAATATTTGACTCTATTCTGCTTTTTAATCTCTTCTCCAAACTTCTGAACATATGACTTTATCTAGCCT
TGTCTCACAATGACTTGGTTATATATATTTTTTATCAGCCTTGCCTTTGCTGATTTCTCCCACAACTCAATAGTTTCCTGAATTAAAATA
ACAGCTTCCGACACTTACCTTTGGAAGGACGGG G/T CTGATCCAAGCAGAAAAGCGTCTCATTTTCGAGCCCGAGTTCACAGGGAGGA
GTGATGTTGCTTCCATTCACAAGAAGGCTGTCAACCACATCCATCCTTGCCTGCTGCTTTCCACCAAGTGCTGGAGAGCTGGTGAATTGC
TCACTCCCGGCTCATTCCTCTAATGACCGAAGCGTCTCGCAGATGCAACCTGCCGTGGAGGAGCAGGGAGGGAGTGATTTCCAGGTGTGG
GCTTTTTCAGCCATTCCTAAAGGCGACTTGAGTTCACCTCACTCACTCCAGCATTTGTACTCCTGTTG-3'
[Top]
RS ID:
52795588
Alleles:
A/G
Validation:
Details:
| Chromosome |
Reference Position |
| 4 |
26483454 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000730  |
NP_000721  |
1 |
V [Val] /
I [Ile]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GCTCCGGCAGCTGTCCACCGGCAGCAGCAGCAGGGCCAACCGCATCCGGAGTAACAGCTCCGCAGCCAACCTGATGGCCAAGAAAAG
GGTGATCCGCATGCTCATCGTCATCGTGGTCCTCTTCTTCCTGTGCTGGATGCCCATCTTCAGCGCCAACGCCTGGCGGGCCTACGACAC
CGCCTCCGCAGAGCGCCGCCTCTCAGGAACCCCCATTTCCTTCATCCTCCTCCTGTCCTACACCTCCTCCTGC A/G TCAACCCCATCA
TCTACTGCTTCATGAACAAACGCTTCCGCCTCGGCTTCATGGCCACCTTCCCCTGCTGCCCCAATCCTGGTCCCCCAGGGGCGAGGGGAG
AGGTGGGGGAGGAGGAGGAAGGCGGGACCACAGGAGCCTCTCTGTCCAGGTTCTCGTACAGCCATATGAGTGCCTCGGTGCCACCCCAGT
GAGATGTCCCCTGACCCTCCACCGCAGAAGGAAGGCAGGGAGGAGGCAGAGAAGAAAG-3'
[Top]
RS ID:
41267457
Alleles:
A/G
Validation:
Details:
| Chromosome |
Reference Position |
| 4 |
26484904 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000730  |
NP_000721  |
1 |
H [His] /
Y [Tyr]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-CAGCTGGCACAGAAAAGGCCTTGGCTTGTTATTGGGTTATATGTGGGTTACTTTATTCCACTCAGAATGCTTTTGAAAGGAATGATT
TCCCCATTTTACAGATAAGAAAATGAAATACTGGGCCCGTGACTGTGCTTCTTGACACAGAATCTCATAAGAATACTTAAAAGCTTTTCC
AACAAACTTTACGTACACTCTGGGTATATCTATTTAAATGATAGAAAACAAGCTTTTGTGCTCATTTGGCATAAACACACAGCTACAAGA
TAGTTACCTTTAGCAGACTTCTTCTGGCTAGCCTCAAATTTTATTCCCTGGTAGAGTTCCAAAGAGATTAATCCATATGCCACCATCATC
ACAATTCCAGGAATAAGAAAGAGGATGAGTAACAGGAATGTGT A/G CCTAATGAAATCAAAAGAAATCCAATAACCAGCAACTTTAGA
CCTTCAAACTCAAATGGGAAGGAATGAATAGGGTTTATGTTTATTTTTACTGGCCTGAGCAAACACATTAATTACTAGTATTTAATATCC
TTGGCAACTTCATGTCTGGAGATTCAGTCATTATAAGTTGTTTACTTCTTTTCTTTTTTTAGATGAAGTCTCTGATGAAGGACTAGTTTA
ATTGGAAAAGTTTGGCGTAATTCTGTGCTTGAAAGAAGTCTATGTATGAAAAAGAATGTAAGCTTTAAAAAATAAGAGTATGTGAATAGC
ATTTCAATAAAGCTGTTTTAAAAACCCTTAAAAATTACTTACATACATCGAGGATTTCTATGTGCTACATATAGGCTAAGCATTTTAC-3
'
[Top]
RS ID:
17846992
Alleles:
C/T
Validation:
Details:
| Chromosome |
Reference Position |
| 4 |
26483276 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_000730  |
NP_000721  |
2 |
S [Ser] /
L [Leu]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-CCTCCTGTCCTACACCTCCTCCTGCGTCAACCCCATCATCTACTGCTTCATGAACAAACGCTTCCGCCTCGGCTTCATGGCCACCTT
CCCCTGCTGCCCCAATCCTGGTCCCCCAGGGGCGAGGGGAGAGGTGGGGGAGGAGGAGGAAGGCGGGACCACAGGAGCCTCTCTGTCCAG
GTTCTCGTACAGCCATATGAGTGCCT C/T GGTGCCACCCCAGTGAGATGTCCCCTGACCCTCCACCGCAGAAGGAAGGCAGGGAGGAG
GCAGAGAANAAAGAACGGAAGAAGAGATCAGGAAGAGAAGGAGCAGAGCTGATGGAGAAGGAAGGCTCCATCTCCAGTGGGAACTCTTCA
AGGTCTGCTTTTCATCCTTCATCTGGATTCCAGAGCACTGCTCCAGTGG-3'
[Top]
RS ID:
16878401
Alleles:
C/T
Validation:
Details:
| Chromosome |
Reference Position |
| 4 |
26487306 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_000730  |
NP_000721  |
3 |
A [Ala] /
A [Ala]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-ACAATAATAATAATACCTATCTTAGAGTGTTTTCAGAGGATTGATTGAATGAATATATGCATGGCATTTAAAACAGAGCTCGCCAGC
TAAGTGTTTGCTATCGTGATTATCCTAGAACGAGGCTAGAAAGACCTTCTCAAAACGTCTCCAGGAAACTGATCCCCCAACCACTCTGGG
CAAGGCATCTCAGTTTTTCATGATATTGCAAAATTACATCAAGCTGTATTTTTAAAAATAAACAATGCAACCTTACCAGGACTGCTGCAT
AACATCATTTGGCAGTAGAAAGCGGCACATATT C/T GCGGTCTGGTTGTTATTTTTGGTAAAAGGCACCAAGTTGCTATAAATGGGGT
ACGGAGTCATGATGGTAAAGGAAAGGCACCAGGTAGCAGCAATCACCTTCAAAGCATGGGATTTTGTCTGCCAGACCCGGGACTGTAAGG
GTTTGCAAATCGCACCATATCTCTCTAGAGATATGGCTACCAGATTAAAGGTAGATACACTCACAGAGGTGCCTGGGAAAGGAACAAAGA
AGCCGGTTATGTTGACTCTGAAATCCAAAGTTTATTTGCACATTAGCTTGAATATATCTGATCTGCAC-3'
[Top]
RS ID:
1805037
Alleles:
C/T
Validation:
- By frequency
- By submitter
- By cluster
Details:
| Chromosome |
Reference Position |
| 4 |
26483659 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_000730  |
NP_000721  |
3 |
I [Ile] /
I [Ile]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TGGGGGCTCCATGCCTTCTACCNGGCATGACCCATCCCCAGCAATGAGTGATGTCTCTTGCCCACCCAGAAAGGAAACCTAGCACCA
CCAGCAGCGGCAAATATGAGGACAGCGATGGGTGTTACCTGCAAAAGACCAGGCCCCCGAGGAAGCTGGAGCTCCGGCAGCTGTCCACCG
GCAGCAGCAGCAGGGCCAACCGCAT C/T CGGAGTAACAGCTCCGCAGCCAACCTGATGGCCAAGAAAAGGGTGATCCGCATGCTCATC
GTCATCGTGGTCCTCTTCTTCCTGTGCTGGATGCCCATCTTCAGCGCCAACGCCTGGCGGGCCTACGACACCGCCTCCGCAGAGCGCCGC
CTCTCAGGAACCCCCATTTCCTTCATCCTCCTCCTGTCCTACACCTCCTCCT-3'
[Top]
RS ID:
1042012
Alleles:
C/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 4 |
26483577 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_000730  |
NP_000721  |
1 |
L [Leu] /
L [Leu]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-CCAAGAAAAGGGTGATCCGCATGCTCATCGTCATCGTGGTCCTCTTCTTC C/T TGTGCTGGATGCCCATCTTCAGCGCCAACGCC
TGGCGGGCCTACGACACC-3'