[Top]
RS ID:
117689292
Alleles:
G/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 6 |
43415002 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_033450  |
NP_258261  |
3 |
S [Ser] /
S [Ser]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TCTCAAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGCGCCCAGCCTCTGT
TGCTTCCTTTAAATGCCAGCAGTCCACAGCCTGGGGAGTCTCCCACAAACGTCCCGGTGTCCAAGCTCTCCCAGCAGCTGGTACTTCTCT
CCCCCAGGGCTGGTGGGCTTGTC G/T CTGTCTTATGCCCTGTCCCTGACGGGCCTGCTCTCGGGCCTGGTGAGCAGCTTCACACAGAC
AGAGGCCATGCTGGTGAGCGTCGAGCGGCTGGAAGAGTACACCTGTGACCTGCCCCAGGAACCCCAGGGCCAGCCACTGCAGGTGGGCCT
GTACCCCCACCCCAGGCCAAAGCTCTGGAACCCTGAAGGCCCCAGTCT-3'
[Top]
RS ID:
116803327
Alleles:
C/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 6 |
43410884 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_033450  |
NP_258261  |
3 |
R [Arg] /
R [Arg]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-CACGGTACCCTCACGTCTCCATAGGAAAAGGAGCTCTATCTCCTCGATGACCCTCTGGCCGCTGTGGATGCAGATGTGGCCAACCAC
CTGCTGCACAGGTGCATCCTGGGCATGCTGAGCTACACCACACGGCTGCTCTGCACCCACCGCACTGAGTACCTGGAGAGGGCTGACGCG
GTGCTGCTGATGGAGGCCGGGCG C/T CTCATCCGGGCTGGTAATGGGGGCAGGAGCCCCGTGTGAGGGAGGTGTCTGCCCAGGTCTGG
CAGGGGATTGTGAAGTACAGACTCTGCCCCCTGCTGCATGTGTGCCCTGAGCCAGTCATTGCTGCCTCCCGCCTTCACAGAACTGGTGTG
AGGAACTGGGAGAACAGGAGGGAAAAGGAGTACGTTGGTAAAATGCCA-3'
[Top]
RS ID:
114662925
Alleles:
G/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 6 |
43409629 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_033450  |
NP_258261  |
3 |
V [Val] /
V [Val]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GATGTTATTGGAATTATGTCTTGTCTCCTCTGACTAGCTCACCCCAAATTTAAGTCTACTCTCCTCAAGCTCCCTACTTCTCTTGAC
TCCCACTATCTCCTGCAAAGGGATAGGAAGTGGGCCAGAAGGTAATGGGAGCTCCCTGACCCACTGGGGCACCTGTTCCATCAGATCCTG
CCTGCTGGAGACCAGACAGAGGT G/T GGGGAGAAGGGTGTCACCCTTAGCGGAGGACAGCGTGCCCGGATTGCCCTTGCTCGTGCTGT
CTACCAGGTCAGTTAAAGATGGAGGTTGCAGTGGCAGGGAGGTGGGGGGAGTCCAGAGCCTTGGGAACTTGGCTGAGTTAGGAGGATAGG
AATATTTTCCTTAGCATCTGGTTCCTTCCCTCCTCCCTTGCATGTTCC-3'
[Top]
RS ID:
114002465
Alleles:
A/G
Validation:
Details:
| Chromosome |
Reference Position |
| 6 |
43403556 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_033450  |
NP_258261  |
2 |
N [Asn] /
S [Ser]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-CAGGATTGGCCAGCCAGCCCTTCAGTTCTGTCATTGCCCAGTTCTTCCCTCCGTAGACCTGTCCACAGGGCTTCCCATAGAAACAGG
CCCTTAGATAACTCCTGGGGCTTCACCCTGCACCCACCTCACTCAGGTGTTCACGGCCCTGGCACTGGTGCGAATGCTCATTCTTCCTCT
CAACAACTTCCCTTGGGTGATCA A/G TGGTCTCCTGGAGGCCAAAGTGTCCTTGGACCGGATCCAGCTTTTCCTCGACCTTCCAAACC
ACAACCCCCAGGCCTACTACAGCCCAGGTAATGGGAAGCTAGTGGGCAGAACCTGGCACAGGGTGAGGAGGGAAGTGGAGCCACTTGGGT
GCTGCGCATAGATGTCACCAAGAGGGCTTAGAGAGAGCGGAATCCAAA-3'
[Top]
RS ID:
113506418
Alleles:
C/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 6 |
43400036 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_033450  |
NP_258261  |
3 |
C [Cys] /
C [Cys]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GAGTCAGCCACGATGTGCCTCCTTGTCTTCCCCCTTGTCCCCAGGAGTCCAGATTACATCCTACCCTGCAGTCCTGGATGGCGCCTC
CGACTTGCAGCTTCCTTCCTGCTTTCCGTCTTCCCGCTGCTAGACCTTCTTCCAGTTGCTTTGCCACCAGGGGCAGGCCCAGGACCCATA
GGGCTAGAGGTGTTGGCAGGGTG C/T GTGGCAGCTGTGGCCTGGATCAGCCACAGCCTGGCCCTGTGGGTGTTGGCACATTCCCCTCA
TGGCCACTCCCGGGGTCCCTTGGCCTTGGCCCTGGTAGCCTTGCTGCCAGCTCCAGCCCTAGTGCTGACCGTGTTGTGGCATTGCCAGCG
AGGCACACTTCTGCCCCCACTTCTCCCAGGGCCCATGGCCCGCCTATG-3'
[Top]
RS ID:
112977568
Alleles:
A/G
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 6 |
43413669 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_033450  |
NP_258261  |
3 |
G [Gly] /
G [Gly]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GGGCTCCTGGCCGTGCTGGGCTCTGGCCTGCCCTGGCTGCTGCTCCTGCTGCCGCCTTTGAGCATCATGTACTATCACGTGCAGCGC
CACTACAGGGCCTCCTCACGGGAGCTGCGGCGCCTGGGCAGCCTCACCCTGTCTCCACTGTATAGCCATCTGGCCGATACCTTGGCTGGC
CTCTCTGTGCTCCGGGCCACAGG A/G GCCACCTACAGGTGTGTGAACCAGAGCCCAGGGGGATGAGGTGTTGGGGGGAGAGGAAAAGA
GAGACCCCCAAGAAGAGGAATATGCAGGGTATGGTTGGTTCAGCCCTCCTGGGGACAAGGGATGGGGAAGGAGGAAAGCAACAGAAGAAG
GAGATAGGGAGGCAGAGTGGACCCCCACTTTGAAAGAGCACACTGGCA-3'
[Top]
RS ID:
112626300
Alleles:
A/G
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 6 |
43400533 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_033450  |
NP_258261  |
2 |
R [Arg] /
Q [Gln]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GCCCGAGGATCAAGAACCTGAGGTGGCTGAAGATGGGGAGAGTTGGCTGTCACGCTTTTCCTATGCCTGGCTGGCACCCTTGCTGGC
CCGTGGGGCCTGTGGAGAGCTCCGGCAGCCTCAGGACATTTGCCGCCTCCCCCACAGACTGCAGCCAACCTACCTGGCTCGTGTCTTCCA
GGCACACTGGCAGGAGGGGGCAC A/G GCTGTGGAGGGCCTTGTATGGGGCCTTTGGACGGTGCTATCTGGCACTTGGACTGCTGAAGC
TGGTGGGGACCATGTTGGGATTCTCAGGGCCCCTGTTGCTCTCCCTACTGGTGGGCTTCCTGGAAGAGGGGCAGGAGCCACTAAGCCACG
GCCTGCTCTATGCTCTGGGGCTAGCCGGTGGGGCTGTGCTGGGTGCTG-3'
[Top]
RS ID:
111715357
Alleles:
C/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 6 |
43414173 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_033450  |
NP_258261  |
2 |
L [Leu] /
P [Pro]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GGCAACAGTGGAGTGGCTTCACATCCCTCTGGCCTTCCCTAGGTTTGAGGAGGAGAACCTGCGACTCCTTGAGCTAAACCAGAGGTG
CCAGTTTGCCACCAGTGCCACAATGCAGTGGCTGGACATTCGGCTACAGCTCATGGGGGCGGCAGTGGTCAGCGCTATCGCAGGCATCGC
TCTGGTGCAGCACCAGCAGGGCC C/T CGCTAACCCAGGTGCCACCCAGGACCCCTCACCCCTACCTCATCCACAAGTTAGTCCACCGC
TCTCCCAGATCTCTCCCTGCACCATCCCCCCAACATTTTCACCTCCCACCCAGGGTTCCCTGTGAGGATGTATCATGATTATCATCATCA
CCCCCGTTTGGAGTTGAGGAGACAATCCCCAGGAGGGACTTGCCCAGG-3'
[Top]
RS ID:
78493482
Alleles:
A/G
Validation:
Details:
| Chromosome |
Reference Position |
| 6 |
43413631 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_033450  |
NP_258261  |
1 |
D [Asp] /
N [Asn]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TCCTCAACATCCTCCTGGCCAACGCGGCAGGCCTGCTGGGGCTCCTGGCCGTGCTGGGCTCTGGCCTGCCCTGGCTGCTGCTCCTGC
TGCCGCCTTTGAGCATCATGTACTATCACGTGCAGCGCCACTACAGGGCCTCCTCACGGGAGCTGCGGCGCCTGGGCAGCCTCACCCTGT
CTCCACTGTATAGCCATCTGGCC A/G ATACCTTGGCTGGCCTCTCTGTGCTCCGGGCCACAGGGGCCACCTACAGGTGTGTGAACCAG
AGCCCAGGGGGATGAGGTGTTGGGGGGAGAGGAAAAGAGAGACCCCCAAGAAGAGGAATATGCAGGGTATGGTTGGTTCAGCCCTCCTGG
GGACAAGGGATGGGGAAGGAGGAAAGCAACAGAAGAAGGAGATAGGGA-3'
[Top]
RS ID:
77430274
Alleles:
G/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 6 |
43412938 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_033450  |
NP_258261  |
3 |
A [Ala] /
A [Ala]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-AGGGTTGTGGCCGGTATTCCAGATGCTGTGACTTCTGGAGGGTGGGAGAGATGGCATGGGGGAGGAGAAAGGACCCCCGAGTGGCCC
TAGTTTTGGTTACCGACAGCCCCCTCCTCACCACCCAGCATCCCAGTGTTCCCACTGCCCAAAGCTGCCCCCAATGGCTCCTCAGACATC
CGTTTCTACCTCACCGTGTATGC G/T ACCATTGCTGGTGTAAATTCCCTCTGCACCCTTCTCCGGGCAGTGCTCTTTGCAGCAGGCAC
CCTTCAAGCAGCTGCCACTCTGCATCGCCGCCTGCTGCATCGAGTCCTTATGGTGAGGGGCTGGGACCTCGGGGGTAGGGGAGTGCAGTC
CTAGCCCCTGTGGAGTGTCCTCCCAATACTCGGGCTCCACTGGGGATG-3'
[Top]
RS ID:
75799355
Alleles:
C/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 6 |
43414147 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_033450  |
NP_258261  |
3 |
I [Ile] /
I [Ile]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TGAGGCCCTGAGGCTGGGTGGCTCAGGGCAACAGTGGAGTGGCTTCACATCCCTCTGGCCTTCCCTAGGTTTGAGGAGGAGAACCTG
CGACTCCTTGAGCTAAACCAGAGGTGCCAGTTTGCCACCAGTGCCACAATGCAGTGGCTGGACATTCGGCTACAGCTCATGGGGGCGGCA
GTGGTCAGCGCTATCGCAGGCAT C/T GCTCTGGTGCAGCACCAGCAGGGCCTCGCTAACCCAGGTGCCACCCAGGACCCCTCACCCCT
ACCTCATCCACAAGTTAGTCCACCGCTCTCCCAGATCTCTCCCTGCACCATCCCCCCAACATTTTCACCTCCCACCCAGGGTTCCCTGTG
AGGATGTATCATGATTATCATCATCACCCCCGTTTGGAGTTGAGGAGA-3'
[Top]
RS ID:
75786176
Alleles:
C/G
Validation:
Details:
| Chromosome |
Reference Position |
| 6 |
43413011 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_033450  |
NP_258261  |
1 |
A [Ala] /
P [Pro]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-CCCCCGAGTGGCCCTAGTTTTGGTTACCGACAGCCCCCTCCTCACCACCCAGCATCCCAGTGTTCCCACTGCCCAAAGCTGCCCCCA
ATGGCTCCTCAGACATCCGTTTCTACCTCACCGTGTATGCGACCATTGCTGGTGTAAATTCCCTCTGCACCCTTCTCCGGGCAGTGCTCT
TTGCAGCAGGCACCCTTCAAGCA C/G CTGCCACTCTGCATCGCCGCCTGCTGCATCGAGTCCTTATGGTGAGGGGCTGGGACCTCGGG
GGTAGGGGAGTGCAGTCCTAGCCCCTGTGGAGTGTCCTCCCAATACTCGGGCTCCACTGGGGATGGGAGAGTCTTTCCTGCCCTGGGATA
TTCTTCCTCAACCTCTGCCAATCTCTCTTCTCTGCCCCCAAATTCTGG-3'
[Top]
RS ID:
73424616
Alleles:
G/T
Validation:
Details:
| Chromosome |
Reference Position |
| 6 |
43402565 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_033450  |
NP_258261  |
3 |
G [Gly] /
G [Gly]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GCAGTGCCTCCACTTCACGCCTCTCCCTTGTCTCCTTTCCCTAGCTTGTGACAGAGCTGCTGAGTGGCATTCGGGTCATCAAGTTCT
GCGGGTGGGAGCAGGCACTGGGAGCCCGAGTAGAGGCCTGCCGGGCTCGAGAGCTGGGGCGACTCCGGGTCATCAAATACCTGGATGCGG
CCTGTGTATACCTGTGGGCTGCCCTACCGGTTGTCATCTCCATCGTTATCTTCATCACCTATGTCCTCATGGG G/T CACCAGCTCACT
GCCACCAAGGTGAGGACCAGGAAGGAAGGGGACCAGCATCAAGGAGACTTCAGCGAAGTGAAGACAGAGGCTTGGGCCCTCAGTGCTGGC
TGAGAAGGAGGGAGGGATCCCTGACTGCCTCATCTCTCAACCAAGGGAAAACTGAAGAAACCTTTTTGTGGGGGCCTTGGATATATAACC
CTCCCCTCTGTGAAGGAGTTCCTTTCTTTCCTCTCCTCTACCTTTCACTCCAGCTTCT-3'
[Top]
RS ID:
73424611
Alleles:
C/T
Validation:
Details:
| Chromosome |
Reference Position |
| 6 |
43400691 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_033450  |
NP_258261  |
1 |
L [Leu] /
F [Phe]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-CCGGCAGCCTCAGGACATTTGCCGCCTCCCCCACAGACTGCAGCCAACCTACCTGGCTCGTGTCTTCCAGGCACACTGGCAGGAGGG
GGCACGGCTGTGGAGGGCCTTGTATGGGGCCTTTGGACGGTGCTATCTGGCACTTGGACTGCTGAAGCTGGTGGGGACCATGTTGGGATT
CTCAGGGCCCCTGTTGCTCTCCCTACTGGTGGGCTTCCTGGAAGAGGGGCAGGAGCCACTAAGCCACGGCCTG C/T TCTATGCTCTGG
GGCTAGCCGGTGGGGCTGTGCTGGGTGCTGTGCTGCAGAATCAGTATGGGTATGAGGTATATAAGGTAACACTTCAGGCACGGGGGGCTG
TGCTGAACATCCTGTACTGCAAGGCTTTACAGCTGGGGCCCAGCCGCCCTCCTACTGGGGAGGCCCTGAACCTACTAGGCACTGACTCTG
AACGGCTGCTTAACTTTGCTGGGAGCTTCCATGAAGCCTGGGGCCTGCCCCTGCAACT-3'
[Top]
RS ID:
71778765
Alleles:
(LARGEDELETION)/-
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 6 |
43417271 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| frameshift |
NM_033450  |
NP_258261  |
1 |
Not Applicable
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GGGGGCCGGAGCTTATCTCTTGGGCAGAGGCAGCTGTTGTGTTTGGCCAGGGCTCTCCTCACAGATGCCAAGGTAAGGTGAGAGAAA
GAGACATTAGAGAGGGCCAGGAAGAAGGCTGGGGGCCGGGAGGTGGGGAGGTAGAGTGGGGAGAGGTTTTAGGGGACCAAGTTCATTTTC
CTTTTAGAGCTGGAAGTGGGGAGCTGTGGTAGGGGCTGTTGCTTGGGCCAGGCCCAACCCACCCTGCAGCCTCTCCTTCCTTCTTATCCC
CTACCCCATTCCCATATTCCAGATCCTGTGTATCGATGAGGCCACAGCAAGTGTGGACCAGAAGACAGACCAGCTGCTCCAGCAGACCAT
CTGCAAACGCTTTGCCAACAAGACAGTGCTGACCATTGCCCAT (LARGEDELETION)/- AGGCTCAACACGATCCTGAACTCAGACC
GGGTGCTGGTGCTACAAGCGGGGAGAGTGGTAGAGCTGGACTCCCCGGCCACCCTGCGCAACCAGCCCCACTCCCTGTTCCAGCAGCTGC
TGCAGAGCAGCCAGCAGGGAGTCCCTGCCTCACTCGGAGGTCCCTGAGCCCAATCCCACACCCTGCAGAGTTCTCCCCTCTCTCTGATCC
AGGCCGGGCCTATACAGAGGTGCTGGCTGCTTGTTTACATTCTCCTCTGGGGCTCTACCTCTCCACACTTCCCCAGAAGGGAAAAGGGCA
CCCTGGATTACTCTTTGGAAATCACTCCTTGGTGGGCAGCATCCTGAGGCTTCCCCAGAACCAGGCCTCTGCTCTGGCCCTCTTGCATCT
GGAACGCCAGG-3'
[Top]
RS ID:
71562705
Alleles:
C/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 6 |
43418558 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_206539  |
NP_996262  |
1 |
V [Val] /
M [Met]
|
| missense |
NM_023932  |
NP_076421  |
1 |
V [Val] /
M [Met]
|
| near-gene-3 |
NM_033450  |
Not Applicable |
Not Applicable |
Not Applicable
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GGCAAGTCACGTGGCAGGGGGAGCCCTGCTGGCAGCATGCTAACCTGACACTCCTGGTCCTGGCACGCTGGAGCATAGTGTGGGGCA
GGGTAGCAACAGGGTCCAGGGGGGCAGACACCCCGGCGCCAGGCCCTCAGGGTCAGCAACACAGTAGCCAGAACCAGGGCAGCAGTGAGG
GCCCCAAACACCACCAGGGCCACCAAGCTAGGCTCACCTAGCCCAGCCTCTTGCCTCCGCACCACCTCCTTCA C/T TGAGATCCGCAG
CAGACCAGCCCCTGCGCTGTGGGGGGCTGGCCCCGTGGCAGGTACCACTACAGCTGAGGTGGGCCCTAGAGGGGTGTCCACTGTGGTTGG
GGGGTCTGGGACAGGTAAGACAAGCTCACAGGTCTTGCCACCATAGCCACTGGGGCAGAGGCAGTCGAAGTTGTGGACACGGTCCCGACA
GCGGGCCCCTCTCTGGCATGGGCGGCTGGCACAGTCATCCAGGTTGATGGTGCAGAAG-3'
[Top]
RS ID:
71562704
Alleles:
C/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 6 |
43418532 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_206539  |
NP_996262  |
3 |
E [Glu] /
E [Glu]
|
| coding-synonymous |
NM_023932  |
NP_076421  |
3 |
E [Glu] /
E [Glu]
|
| near-gene-3 |
NM_033450  |
Not Applicable |
Not Applicable |
Not Applicable
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GTGCTGTGGTCTTTCCAGGCTCAGGGGGCAAGTCACGTGGCAGGGGGAGCCCTGCTGGCAGCATGCTAACCTGACACTCCTGGTCCT
GGCACGCTGGAGCATAGTGTGGGGCAGGGTAGCAACAGGGTCCAGGGGGGCAGACACCCCGGCGCCAGGCCCTCAGGGTCAGCAACACAG
TAGCCAGAACCAGGGCAGCAGTGAGGGCCCCAAACACCACCAGGGCCACCAAGCTAGGCTCACCTAGCCCAGC C/T TCTTGCCTCCGC
ACCACCTCCTTCACTGAGATCCGCAGCAGACCAGCCCCTGCGCTGTGGGGGGCTGGCCCCGTGGCAGGTACCACTACAGCTGAGGTGGGC
CCTAGAGGGGTGTCCACTGTGGTTGGGGGGTCTGGGACAGGTAAGACAAGCTCACAGGTCTTGCCACCATAGCCACTGGGGCAGAGGCAG
TCGAAGTTGTGGACACGGTCCCGACAGCGGGCCCCTCTCTGGCATGGGCGGCTGGCAC-3'
[Top]
RS ID:
62402415
Alleles:
A/G
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 6 |
43413652 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_033450  |
NP_258261  |
1 |
V [Val] /
M [Met]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GGCCTGTGCGGATGACAGCCTGCCCTTCATCCTCAACATCCTCCTGGCCAACGCGGCAGGCCTGCTGGGGCTCCTGGCCGTGCTGGG
CTCTGGCCTGCCCTGGCTGCTGCTCCTGCTGCCGCCTTTGAGCATCATGTACTATCACGTGCAGCGCCACTACAGGGCCTCCTCACGGGA
GCTGCGGCGCCTGGGCAGCCTCACCCTGTCTCCACTGTATAGCCATCTGGCCGATACCTTGGCTGGCCTCTCT A/G TGCTCCGGGCCA
CAGGGGCCACCTACAGGTGTGTGAACCAGAGCCCAGGGGGATGAGGTGTTGGGGGGAGAGGAAAAGAGAGACCCCCAAGAAGAGGAATAT
GCAGGGTATGGTTGGTTCAGCCCTCCTGGGGACAAGGGATGGGGAAGGAGGAAAGCAACAGAAGAAGGAGATAGGGAGGCAGAGTGGACC
CCCACTTTGAAAGAGCACACTGGCATCTGCAGCCCTGAGGGAGGCCTGTGGGTATACA-3'
[Top]
RS ID:
62402414
Alleles:
A/C
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 6 |
43409676 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_033450  |
NP_258261  |
2 |
A [Ala] /
D [Asp]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-CTTGATGTTATTGGAATTATGTCTTGTCTCCTCTGACTAGCTCACCCCAAATTTAAGTCTACTCTCCTCAAGCTCCCTACTTCTCTT
GACTCCCACTATCTCCTGCAAAGGGATAGGAAGTGGGCCAGAAGGTAATGGGAGCTCCCTGACCCACTGGGGCACCTGTTCCATCAGATC
CTGCCTGCTGGAGACCAGACAGAGGTGGGGGAGAAGGGTGTCACCCTTAGCGGAGGACAGCGTGCCCGGATTG A/C CCTTGCTCGTGC
TGTCTACCAGGTCAGTTAAAGATGGAGGTTGCAGTGGCAGGGAGGTGGGGGGAGTCCAGAGCCTTGGGAACTTGGCTGAGTTAGGAGGAT
AGGAATATTTTCCTTAGCATCTGGTTCCTTCCCTCCTCCCTTGCATGTTCCTGAGGTATTGGCCATCTCATCCCCTTTTGCAGATTTAAG
GCAGAGTTCAAGGCCTTTAAAAAGTATTTGTAGGCTGGGCATGGTGGCTTAGGTCTGT-3'
[Top]
RS ID:
61740187
Alleles:
A/G
Validation:
Details:
| Chromosome |
Reference Position |
| 6 |
43401027 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_033450  |
NP_258261  |
1 |
N [Asn] /
D [Asp]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GGTGCTGTGCTGCAGAATCAGTATGGGTATGAGGTATATAAGGTAACACTTCAGGCACGGGGGGCTGTGCTGAACATCCTGTACTGC
AAGGCTTTACAGCTGGGGCCCAGCCGCCCTCCTACTGGGGAGGCCCTGAACCTACTAGGCACTGACTCTGAACGGCTGCTTAACTTTGCT
GGGAGCTTCCATGAAGCCTGGGGCCTGCCCCTGCAACTGGCCATCACCCTCTACCTGCTGTACCAGCAGGTAGGCGTGGCCTTCGTGGGT
GGTCTCATCTTGGCACTGCTGCTGGTACCCGTC A/G ACAAAGTGATTGCCACCCGCATCATGGCCAGCAACCAGGAAATGCTACAGCA
CAAGGATGCGCGGGTTAAGGTGAGCRGGTACTTGGGGTCCCTCAGCTATCTGGAGACCCCACCCAGCCCAGGTCCCCAGGTCTTCCCATG
CACACTACCTGAGGGAGTGAGAGTGACCTCAAAGTTAAGAGCTGAGACTGGAGAAAGGTAGACCTGGGTTCAAATCCTGGCTCTACACTT
ACTGGTTCAATCACTTCAGACAAGTCACTTAACCTATTTGGGCTTCCCCTTCCTCATCTGTAAAGTGA-3'
[Top]
RS ID:
45535935
Alleles:
G/T
Validation:
Details:
| Chromosome |
Reference Position |
| 6 |
43400342 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_033450  |
NP_258261  |
3 |
D [Asp] /
E [Glu]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-TGCTTTCCGTCTTCCCGCTGCTAGACCTTCTTCCAGTTGCTTTGCCACCAGGGGCAGGCCCAGGACCCATAGGGCTAGAGGTGTTGG
CAGGGTGCGTGGCAGCTGTGGCCTGGATCAGCCACAGCCTGGCCCTGTGGGTGTTGGCACATTCCCCTCATGGCCACTCCCGGGGTCCCT
TGGCCTTGGCCCTGGTAGCCTTGCTGCCAGCTCCAGCCCTAGTGCTGACCGTGTTGTGGCATTGCCAGCGAGGCACACTTCTGCCCCCAC
TTCTCCCAGGGCCCATGGCCCGCCTATGCTTGCTCATCCTGCAGCTGGCTGCACTCTTGGCCTATGCACTGGGATGGGCAGCTCCTGGGG
GACCACGAGAACCCTGGGCTCAGGAGCCCCTCCTGCCCGAGGA G/T CAAGAACCTGAGGTGGCTGAAGATGGGGAGAGTTGGCTGTCA
CGCTTTTCCTATGCCTGGCTGGCACCCTTGCTGGCCCGTGGGGCCTGTGGAGAGCTCCGGCAGCCTCAGGACATTTGCCGCCTCCCCCAC
AGACTGCAGCCAACCTACCTGGCTCGTGTCTTCCAGGCACACTGGCAGGAGGGGGCACGGCTGTGGAGGGCCTTGTATGGGGCCTTTGGA
CGGTGCTATCTGGCACTTGGACTGCTGAAGCTGGTGGGGACCATGTTGGGATTCTCAGGGCCCCTGTTGCTCTCCCTACTGGTGGGCTTC
CTGGAAGAGGGGCAGGAGCCACTAAGCCACGGCCTGCTCTATGCTCTGGGGCTAGCCGGTGGGGCTGTGCTGGGTGCTGTGCTGCAGA-3
'
[Top]
RS ID:
45480693
Alleles:
A/G
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 6 |
43400500 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_033450  |
NP_258261  |
2 |
R [Arg] /
H [His]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GGCCACTCCCGGGGTCCCTTGGCCTTGGCCCTGGTAGCCTTGCTGCCAGCTCCAGCCCTAGTGCTGACCGTGTTGTGGCATTGCCAG
CGAGGCACACTTCTGCCCCCACTTCTCCCAGGGCCCATGGCCCGCCTATGCTTGCTCATCCTGCAGCTGGCTGCACTCTTGGCCTATGCA
CTGGGATGGGCAGCTCCTGGGGGACCACGAGAACCCTGGGCTCAGGAGCCCCTCCTGCCCGAGGATCAAGAACCTGAGGTGGCTGAAGAT
GGGGAGAGTTGGCTGTCACGCTTTTCCTATGCCTGGCTGGCACCCTTGCTGGCCCGTGGGGCCTGTGGAGAGCTCCGGCAGCCTCAGGAC
ATTTGCCGCCTCCCCCACAGACTGCAGCCAACCTACCTGGCTC A/G TGTCTTCCAGGCACACTGGCAGGAGGGGGCACGGCTGTGGAG
GGCCTTGTATGGGGCCTTTGGACGGTGCTATCTGGCACTTGGACTGCTGAAGCTGGTGGGGACCATGTTGGGATTCTCAGGGCCCCTGTT
GCTCTCCCTACTGGTGGGCTTCCTGGAAGAGGGGCAGGAGCCACTAAGCCACGGCCTGCTCTATGCTCTGGGGCTAGCCGGTGGGGCTGT
GCTGGGTGCTGTGCTGCAGAATCAGTATGGGTATGAGGTATATAAGGTAACACTTCAGGCACGGGGGGCTGTGCTGAACATCCTGTACTG
CAAGGCTTTACAGCTGGGGCCCAGCCGCCCTCCTACTGGGGAGGCCCTGAACCTACTAGGCACTGACTCTGAACGGCTGCTTAACTTT-3
'
[Top]
RS ID:
41281806
Alleles:
A/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 6 |
43418453 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_206539  |
NP_996262  |
1 |
L [Leu] /
M [Met]
|
| missense |
NM_023932  |
NP_076421  |
1 |
L [Leu] /
M [Met]
|
| near-gene-3 |
NM_033450  |
Not Applicable |
Not Applicable |
Not Applicable
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GGAACGCCAGGTGGGTTTTTCTGGCATAGGAGCCCACTTGCATTTTCATAGTTTTATTTGATAAAATTCCATCTTACATTCTGTGTA
TTAAAAAAATAATATTTCTGGTGTGAGGCTGAGGTCTCCTCTGTGTGTGTACCCAAGCTGAAGGGTGGTGAGAACGGACCACTCCAGTCT
GAGGGGTGGAAGAGGTGAGGAAGGGGGCCAGAAAGCCCCCACCTCCATCACAGTGCTGTGGTCTTTCCAGGCTCAGGGGGCAAGTCACGT
GGCAGGGGGAGCCCTGCTGGCAGCATGCTAACCTGACACTCCTGGTCCTGGCACGCTGGAGCATAGTGTGGGGCAGGGTAGCAACAGGGT
CCAGGGGGGCAGACACCCCGGCGCCAGGCCCTCAGGGTCAGCA A/T CACAGTAGCCAGAACCAGGGCAGCAGTGAGGGCCCCAAACAC
CACCAGGGCCACCAAGCTAGGCTCACCTAGCCCAGCCTCTTGCCTCCGCACCACCTCCTTCACTGAGATCCGCAGCAGACCAGCCCCTGC
GCTGTGGGGGGCTGGCCCCGTGGCAGGTACCACTACAGCTGAGGTGGGCCCTAGAGGGGTGTCCACTGTGGTTGGGGGGTCTGGGACAGG
TAAGACAAGCTCACAGGTCTTGCCACCATAGCCACTGGGGCAGAGGCAGTCGAAGTCGTGGACACGGTCCCGACAGCGGGCCCCTCTCTG
GCATGGGCGGCTGGCACAGTCATCCAGGTTGATGGTGCAGAAGCGTCCAGCAAAGCCCTCAGGACAGAGGCAGGAGAAGCGGTTTATG-3
'
[Top]
RS ID:
41281804
Alleles:
C/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 6 |
43413553 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_033450  |
NP_258261  |
1 |
R [Arg] /
C [Cys]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GCCCTGGGATATTCTTCCTCAACCTCTGCCAATCTCTCTTCTCTGCCCCCAAATTCTGGGGATATTTTAGTCCTTCCCTATTCTCTA
TCTTGGGCCTTCCCCTCCACCCCACCTCCCCCAGTGCTGCCTGCCAACCCCTCTTCTGCCAGACTCTGCCCTGGCCCAATCAGCGTCCTT
CTCCCAGGCACCAGTGACTTTCTTCAATGCCACACCCACGGGCCGGATCCTAAACCGCTTCTCCTCTGATGTGGCCTGTGCGGATGACAG
CCTGCCCTTCATCCTCAACATCCTCCTGGCCAACGCGGCAGGCCTGCTGGGGCTCCTGGCCGTGCTGGGCTCTGGCCTGCCCTGGCTGCT
GCTCCTGCTGCCGCCTTTGAGCATCATGTACTATCACGTGCAG C/T GCCACTACAGGGCCTCCTCACGGGAGCTGCGGCGCCTGGGCA
GCCTCACCCTGTCTCCACTGTATAGCCATCTGGCCGATACCTTGGCTGGCCTCTCTGTGCTCCGGGCCACAGGGGCCACCTACAGGTGTG
TGAACCAGAGCCCAGGGGGATGAGGTGTTGGGGGGAGAGGAAAAGAGAGACCCCCAAGAAGAGGAATATGCAGGGTATGGTTGGTTCAGC
CCTCCTGGGGACAAGGGATGGGGAAGGAGGAAAGCAACAGAAGAAGGAGATAGGGAGGCAGAGTGGACCCCCACTTTGAAAGAGCACACT
GGCATCTGCAGCCCTGAGGGAGGCCTGTGGGTATACAGACCAGCTCCCAAGAAGGAGCTGCTCAATAAGGGCCTTCCCTGTTGAGGCC-3
'
[Top]
RS ID:
41281802
Alleles:
C/T
Validation:
Details:
| Chromosome |
Reference Position |
| 6 |
43412082 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_033450  |
NP_258261  |
1 |
L [Leu] /
F [Phe]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GAGATTCTGCCACTGGTACAAGCTGTCCCCAAAGCCTGGGCTGAGAATGGACAAGAGTCTGACTCAGGTATGGCTCCCCAGTGGGAG
AAAAGGGCTTGCTTTTCCCTGCCACACTGTAGAGCTTTTTCTACAACGGCTGCCCGCTCCTCTGAAATACTGAGTTTTCAGCTGGCACCC
TGCAAGCTTAATTCTTCCATGACCCCTGATTCTCACAGCCACAGCCCAGTCAGTACAGAACCCAGAGAAAACAAAGGAGGGGCTGGAGGA
GGAGCAGAGCACATCTGGTCGCCTGCTGCAGGAAGAAAGCAAGAAGGAGGGCGCCGTGGCCTTGCACGTGTACCAAGCTTACTGGAAGGC
CGTGGGCCAGGGCTTGGCCTTAGCCATCCTCTTCTCTCTGCTT C/T TCATGCAAGGTGAGAGCGTGCCTGGGAGTCTCTTACATCGTA
ACGGCTGTGCTGTCTAGGTGCCCATTACCTTGCACTAATCATTACAAAGCCCAGAGACTCACCAAGCATGGGTCACAGCTGGGACAAAAG
CCATACTCCTAATTCTGAGAGATGCCCAGGGGCCAGAGGCATGTGCTCTATAGCTGGCTTCTGTTCTGCCCCCTAGGTTAGCTCCCATTC
TGCAAGTCTGAGATCCTGTTCTCCCCAGAGCTGAAGGGTGACGGGCCTATGAGAGAAGCCCACACTAGGGAGGATATGGGGTAGTGGCAG
GGTGGGGAGGCCAGGCCAGGCGGATGGAGATGGGCAGGAACCAGAGGCAAGGGCGGAGAAAGGGGGCATTGGAATAGAATGAACAAGG-3
'
[Top]
RS ID:
41271275
Alleles:
A/G
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 6 |
43410832 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_033450  |
NP_258261  |
2 |
R [Arg] /
H [His]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GCACTCCAGCCTGGGCAACAGAGCAAGACCATGTCTCAAAAAAAAAAAAAAGTGTTATATGGGCTGAGGGCCTGGGACCTAGGAAAG
CTGAGTGCTGGCCCTGGGGTGCTGTTCTTTCTTGCCTGAAGGGATGTCCACCCTCAGGTCTCACCTCCTTCTCTGCTAGTGTAGGGGTAG
CCCCCAGAGTTTCTCTCAACTGTCTTCTCTGATCACTTTGAGATCTTCTCCGGAGAGCCTTTGGGTCCTGGTGCCCACGGTACCCTCACG
TCTCCATAGGAAAAGGAGCTCTATCTCCTCGATGACCCTCTGGCCGCTGTGGATGCAGATGTGGCCAACCACCTGCTGCACAGGTGCATC
CTGGGCATGCTGAGCTACACCACACGGCTGCTCTGCACCCACC A/G CACTGAGTACCTGGAGAGGGCTGACGCGGTGCTGCTGATGGA
GGCCGGGCGCCTCATCCGGGCTGGTAATGGGGGCAGGAGCCCCGTGTGAGGGAGGTGTCTGCCCAGGTCTGGCAGGGGATTGTGAAGTAC
AGACTCTGCCCCCTGCTGCATGTGTGCCCTGAGCCAGTCATTGCTGCCTCCCGCCTTCACAGAACTGGTGTGAGGAACTGGGAGAACAGG
AGGGAAAAGGAGTACGTTGGTAAAATGCCAGTGTATTTGGGACTCATGGGCTTTGTGACTGGGTGCTCTTGGGAACTTAAAGGCCCAGGG
TCTCTGAGAACATTCTCATATCTTCAGAGAAGAGAAAGGAGTCAGGTTTAGAATGGTCTTTTTGTAAAAACAAAAATTTTTAAACTCT-3
'
[Top]
RS ID:
41271273
Alleles:
C/T
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 6 |
43400086 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_033450  |
NP_258261  |
2 |
A [Ala] /
V [Val]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-AATGAGTTAGGTTCATCTGGGAAGACTTCCTGGGAGAAAAGACCCTGGGTTCTGAGGTAAAGTGGAGTAGGGATAAGATGTGCAAGG
CAGGAAGGGAGTTGATTCCTTAGGTAAGTGAATTATTGGAGGTGAGGGGTATGTCTGGCTCCTGAGTCAGCCACGATGTGCCTCCTTGTC
TTCCCCCTTGTCCCCAGGAGTCCAGATTACATCCTACCCTGCAGTCCTGGATGGCGCCTCCGACTTGCAGCTTCCTTCCTGCTTTCCGTC
TTCCCGCTGCTAGACCTTCTTCCAGTTGCTTTGCCACCAGGGGCAGGCCCAGGACCCATAGGGCTAGAGGTGTTGGCAGGGTGCGTGGCA
GCTGTGGCCTGGATCAGCCACAGCCTGGCCCTGTGGGTGTTGG C/T ACATTCCCCTCATGGCCACTCCCGGGGTCCCTTGGCCTTGGC
CCTGGTAGCCTTGCTGCCAGCTCCAGCCCTAGTGCTGACCGTGTTGTGGCATTGCCAGCGAGGCACACTTCTGCCCCCACTTCTCCCAGG
GCCCATGGCCCGCCTATGCTTGCTCATCCTGCAGCTGGCTGCACTCTTGGCCTATGCACTGGGATGGGCAGCTCCTGGGGGACCACGAGA
ACCCTGGGCTCAGGAGCCCCTCCTGCCCGAGGATCAAGAACCTGAGGTGGCTGAAGATGGGGAGAGTTGGCTGTCACGCTTTTCCTATGC
CTGGCTGGCACCCTTGCTGGCCCGTGGGGCCTGTGGAGAGCTCCGGCAGCCTCAGGACATTTGCCGCCTCCCCCACAGACTGCAGCCA-3
'
[Top]
RS ID:
35192247
Alleles:
C/T
Validation:
Details:
| Chromosome |
Reference Position |
| 6 |
43418528 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_206539  |
NP_996262  |
1 |
G [Gly] /
R [Arg]
|
| missense |
NM_023932  |
NP_076421  |
1 |
G [Gly] /
R [Arg]
|
| near-gene-3 |
NM_033450  |
Not Applicable |
Not Applicable |
Not Applicable
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-ACATTCTGTGTATTAAAAAAATAATATTTCTGGTGTGAGGCTGAGGTCTCCTCTGTGTGTGTACCCAAGCTGAAGGGTGGTGAGAAC
GGACCACTCCAGTCTGAGGGGTGGAAGAGGTGAGGAAGGGGGCCAGAAAGCCCCCACCTCCATCACAGTGCTGTGGTCTTTCCAGGCTCA
GGGGGCAAGTCACGTGGCAGGGGGAGCCCTGCTGGCAGCATGCTAACCTGACACTCCTGGTCCTGGCACGCTGGAGCATAGTGTGGGGCA
GGGTAGCAACAGGGTCCAGGGGGGCAGACACCCCGGCGCCAGGCCCTCAGGGTCAGCAACACAGTAGCCAGAACCAGGGCAGCAGTGAGG
GCCCCAAACACCACCAGGGCCACCAAGCTAGGCTCACCTAGCC C/T AGCCTCTTGCCTCCGCACCACCTCCTTCACTGAGATCCGCAG
CAGACCAGCCCCTGCGCTGTGGGGGGCTGGCCCCGTGGCAGGTACCACTACAGCTGAGGTGGGCCCTAGAGGGGTGTCCACTGTGGTTGG
GGGGTCTGGGACAGGTAAGACAAGCTCACAGGTCTTGCCACCATAGCCACTGGGGCAGAGGCAGTCGAAGTCGTGGACACGGTCCCGACA
GCGGGCCCCTCTCTGGCATGGGCGGCTGGCACAGTCATCCAGGTTGATGGTGCAGAAGCGTCCAGCAAAGCCCTCAGGACAGAGGCAGGA
GAAGCGGTTTATGCCGTCAAGGCAGGTGGCACCGTTAGCACAAGGCCGCATCAGGCAGTCATCCACATTTACCTCACAGCGGGCACCC-3
'
[Top]
RS ID:
35056042
Alleles:
A/G
Validation:
Details:
| Chromosome |
Reference Position |
| 6 |
43418328 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_206539  |
NP_996262  |
3 |
L [Leu] /
L [Leu]
|
| coding-synonymous |
NM_023932  |
NP_076421  |
3 |
L [Leu] /
L [Leu]
|
| near-gene-3 |
NM_033450  |
Not Applicable |
Not Applicable |
Not Applicable
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-CCTCTGCTCTGGCCCTCTTGCATCTGGAACGCCAGGTGGGTTTTTCTGGCATAGGAGCCCACTTGCATTTTCATAGTTTTATTTGAT
AAAATTCCATCTTACATTCTGTGTATTAAAAAAATAATATTTCTGGTGTGAGGCTGAGGTCTCCTCTGTGTGTGTACCCAAGCTGAAGGG
TGGTGAGAACGGACCACTCCAGTCTGAGGGGTGGAAGAGGTGAGGAAGGGGGCCAGAAAGCCCCCACCTCCATCACAGTGCTGTGGTCTT
TCCAGGCTCAGGGGGCAAGTCACGTGGCAGGGG A/G AGCCCTGCTGGCAGCATGCTAACCTGACACTCCTGGTCCTGGCACGCTGGAG
CATAGTGTGGGGCAGGGTAGCAACAGGGTCCAGGGGGGCAGACACCCCGGCGCCAGGCCCTCAGGGTCAGCAACACAGTAGCCAGAACCA
GGGCAGCAGTGAGGGCCCCAAACACCACCAGGGCCACCAAGCTAGGCTCACCTAGCCCAGCCTCTTGCCTCCGCACCACCTCCTTCACTG
AGATCCGCAGCAGACCAGCCCCTGCGCTGTGGGGGGCTGGCCCCGTGGCAGGTACCACTACAGCTGAG-3'
[Top]
RS ID:
6901992
Alleles:
C/T
Validation:
Details:
| Chromosome |
Reference Position |
| 6 |
43415429 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_033450  |
NP_258261  |
2 |
T [Thr] /
I [Ile]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-ACCCATCTTTCTCAGCTCCCATAACCTCTCTTCATGATGACCACAATTCTTCACCATGTCCCTTCTTCCCCATCTCTCATTCTCTCA
TTCCTCTCACACTGTCCATTTCTCATTATTCTCCCCTCCTCACCATCGCTCCTCATCTCCCCTATCTCCCTTTCCCCGTCTGTCTCCCAC
CCATGGACCCCACCAGCTGGGCA C/T CGGCTGGCTGACCCAGGGGGGCGTGGAGTTCCAGGACGTGGTGTTGGCGTACCGGCCAGGGC
TGCCGAATGCCCTGGATGGAGTGACCTTCTGCGTGCAGCCTGGAGAGAAGTTGGGCATCGTGGGCCGCACAGGCTCCGGCAAGTCTTCCC
TGTTGTTGGTGCTCTTCCGGCTGCTAGAGCCCAGTTCAGGGCGAGTGC-3'
[Top]
RS ID:
3823248
Alleles:
A/G
Validation:
Not Completed
Details:
| Chromosome |
Reference Position |
| 6 |
43400204 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_033450  |
NP_258261  |
3 |
P [Pro] /
P [Pro]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-GCCAGCTCCAGCCCTAGTGCTGACCGTGTTGTGGCATTGCCAGCGAGGCACACTTCTGCC A/G CCACTTCTCCCAGGGCCCATGG
CCCGCCTATGCTTGCTCATCCTGCAGCT-3'
[Top]
RS ID:
2277122
Alleles:
C/T
Validation:
Details:
| Chromosome |
Reference Position |
| 6 |
43406501 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_033450  |
NP_258261  |
1 |
L [Leu] /
L [Leu]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-ATACTCTCCACTGAGCTCCTGAACAGATGTAAGTACAACAGCTGCTTGGCTGTAGCCAAAGAGCTATTTCTTCCCTTCTTCGCCCAG
AATGGGCTTCATTAGGACCCCTTGACCTCAGGAGCTGCCATCTCAGTCATGTGACATGAAGGGGGACCCTGTGTAGAAGACAGCAGCCTG
GGGAGGCTTCTAGGAGTCAAGGGCTGGGCATGGAGGGACCCAGAGGAGAGCTGGTCCTCATATTGCTCGCCTGGCTCTCTGCAGGCTGCG
TGGGCATGTGGCAGTGCGGGGGCTGTCCAAGGGCTTTGGCCTGGCCACCCAGGAACCCTGGATCCAGTTTGCCACCATCCGAGACAACAT
CCTCTTTGGGAAGACATTTGATGCACAGCTGTACAAGGAGGTG C/T TAGAAGCCTGCGCCCTCAATGATGACCTCAGTGTGAGTGCCT
GGCCTTGAAACCTCTTAGCTGCCTGTTTCTCCAGTGTCCCTGACACCTCAAACCAGGAGCTTTGCTTTTCTGGAAAGGGGTTGCTTCTAC
TCGGGCATCACTTATCTAGGAATGGCCATCGGACTGTGGTCCTCCCAGAGTGTCCAGCTGCCCCTTCTGATAGGGCCCAGTAGGGTGGTG
ACTGTGTGTTCTGCACAGTTGTGGGAAGAGCCCTAAGGCCTCTGGAGCTAGGGAGGGTTCCACCTGTGGGGCTTAGCTCTGCACAGCCTG
GCTCCTTGTCCCCTTCTCCATACCCACTTCCCACTGGGAAGGCTTGGAAGAGTCAAAGTTTCATTTGGTTGCAGGTTACCCTAGGGAA-3
'
[Top]
RS ID:
2125740
Alleles:
C/T
Validation:
Details:
| Chromosome |
Reference Position |
| 6 |
43412935 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| coding-synonymous |
NM_033450  |
NP_258261  |
3 |
Y [Tyr] /
Y [Tyr]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-AAGGGCGGAGAAAGGGGGCATTGGAATAGAATGAACAAGGGAGAGGAGCCTCTTACAGCTTTTTCCTTCCTGTCCCCACCCAGCCAC
GCGGAACGCTGCTGACTGGTGGCTCTCCCACTGGATCTCTCAGCTGAAGGCTGAGAATAGCTCCCAGGAGGCGCAACCCTCCACCAGCCC
AGCTTCTATGGGGCTCTTCTCTCCGCAGCTGCTCCTCTTTTCCCCTGGAAACCTCTAGTGAGTGGCTGGGGCTGGGGGTAGGCCTGGTGC
TCTCAGAGTGGTCGCCAGGCAGGGAGTGAGGGTTGTGGCCGGTATTCCAGATGCTGTGACTTCTGGAGGGTGGGAGAGATGGCATGGGGG
AGGAGAAAGGACCCCCGAGTGGCCCTAGTTTTGGTTACCGACAGCCCCCTCCTCACCACCCAGCATCCCAGTGTTCCCACTGCCCAAAGC
TGCCCCCAATGGCTCCTCAGACATCCGTTTCTACCTCACCGTGTA C/T GCGACCATTGCTGGTGTAAATTCCCTCTGCACCCTTCTCC
GGGCAGTGCTCTTTGCAGCAGGCACCCTTCAAGCAGCTGCCACTCTGCATCGCCGCCTGCTGCATCGAGTCCTTATGGTGAGGGGCTGGG
ACCTCGG-3'
[Top]
RS ID:
2125739
Alleles:
C/T
Validation:
- By frequency
- By 2 hit 2 allele
- By cluster
Details:
| Chromosome |
Reference Position |
| 6 |
43412865 |
| Function Class |
mRNA Accession |
Protein Accession |
Reading Frame |
Amino Acids |
| missense |
NM_033450  |
NP_258261  |
2 |
I [Ile] /
T [Thr]
|
Source: dbSNP
Population Frequencies:
Not Completed
Sequence:
5'-AAGGGCGGAGAAAGGGGGCATTGGAATAGAATGAACAAGGGAGAGGAGCCTCTTACAGCTTTTTCCTTCCTGTCCCCACCCAGCCAC
GCGGAACGCTGCTGACTGGTGGCTCTCCCACTGGATCTCTCAGCTGAAGGCTGAGAATAGCTCCCAGGAGGCGCAACCCTCCACCAGCCC
AGCTTCTATGGGGCTCTTCTCTCCGCAGCTGCTCCTCTTTTCCCCTGGAAACCTCTAGTGAGTGGCTGGGGCTGGGGGTAGGCCTGGTGC
TCTCAGAGTGGTCGCCAGGCAGGGAGTGAGGGTTGTGGCCGGTATTCCAGATGCTGTGACTTCTGGAGGGTGGGAGAGATGGCATGGGGG
AGGAGAAAGGACCCCCGAGTGGCCCTAGTTTTGGTTACCGACAGCCCCCTCCTCACCACCCAGCA C/T CCCAGTGTTCCCACTGCCCA
AAGCTGCCCCCAATGGCTCCTCAGACATCCGTTTCTACCTCACCGTGTATGCGACCATTGCTGGTGTAAATTCCCTCTGCACCCTTCTCC
GGGCAGTGCTCTTTGCAGCAGGCACCCTTCAAGCAGCTGCCACTCTGCATCGCCGCCTGCTGCATCGAGTCCTTATGGTGAGGGGCTGGG
ACCTCGG-3'