Table 3. Molecular biological information of each variant among controls (n = 100) and cases (n = 108).
Location (Relative to) | ||||||||
Chromsom start | mRNA start | dsSNP rs# | Region | Protein residue | Amino Acid pos. | dbSNP allele | Controls | SNP pos. c |
98655937 | −470 | rs16896059 | Flanking seq | G/A | G/G 55; A/G 34; A/A11 | GGCGTCAG | ||
98656002 | −405 | untitled_1 | C/T | C/C 99; C/T 1; T/T 0 | ATTCCACCT | |||
98656207 | −200 | rs2512449 | A/G | G/G 38; A/G 43; A/A 19 | GTCCACCAA | |||
98656407 | 1 | untitled_2 | 5′UTR | G/A | G/G 98; A/G 2; A/A 0 | TCGCGGCCC | ||
98656788 | 382 | rs118122079 | exon_1 | Ser-Ser | 18 | G/A | G/G 99; G/A 1; A/A 0 | GCTCGGCCC a |
98725970 | 1681 | rs2331652 | exon_9 | Lys-Lys | 451 | G/A | G/G 64;A/G 31; A/A 5 | AGAAGCAAG a |
98736822 | — | untitled_3 | intron_11 | T/C | T/T 89; C/T 9; C/C 2 | TCTTTTTTA | ||
98737749 | 2928 | rs2438211 | 3′UTR | C/T | C/C2928A/A3088T/T354053; | AATACTTTG b | ||
98737909 | 3088 | rs2449512 | A/G | C/T2928A/G3088T/C354040; | ATCAATTTC b | |||
98738361 | 3540 | rs1311 | T/C | T/T2928G/G3088C/C35407 | AAAATGGTT b | |||
98737499 | 2678 | untitled_4 | G/T | G/G 99; G/T 1; T/T 0 | AAATGCAGTT | |||
98738288 | 3467 | untitled_5 | C/T | C/C 99; C/T 1; T/T 0 | CCATCCAATG | |||
98738324 | 3503 | untitled_6 | A/T | A/A 99; A/T 1; T/T 0 | ACAGTATTGC | |||
Cases | ||||||||
98655937 | −470 | rs16896059 | Flanking seq | G/A | G/G 60; A/G 41; A/A 7 | CGGCGTCAG | ||
98656207 | −200 | rs2512449 | A/G | G/G 46; A/G 47; A/A 15 | GTCCACCAA | |||
98656788 | 382 | rs118122079 | exon_1 | G/A | G/G 105; A/G 2; A/A 1 | GCTCGGCCC | ||
98703373 | 1333 | untitled_ 7 | exon_6 | Asp-Glu | 335 | C/G | C/C 107; C/G 1; G/G 0 | AAAAGACTGG a |
98711995 | 1390 | untitled_ 8 | exon_7 | Glu-Glu | 354 | G/A | G/G 107; G/A 1;A/A 0 | CTGAGCCAGT a |
98718853 | — | untitled_ 9 | intron_7 | G/C | G/G 107; G/C 1; C/C 0 | TTTAGATGGT | ||
98725970 | 1681 | rs2331652 | exon_9 | Lys-Lys | 451 | G/A | G/G 52;A/G 46;A/A 10 | AGAAGCAAG a |
98736822 | — | untitled_ 3 | intron_11 | T/C | T/T 84; C/T 24; C/C 0 | TCTTTTTTA | ||
98737749 | 2928 | rs2438211 | 3′UTR | C/T | C/C2928A/A3088T/T354059; | AATACTTTG b | ||
98737909 | 3088 | rs2449512 | A/G | C/T2928A/G3088T/C354038; | ATCAATTTC b | |||
98738361 | 3540 | rs1311 | T/C | T/T2928G/G3088C/C354011; | AAAATGGTT b |
The double-underlined characters standed for the codon which contains SNP.
The complete linkage among the three SNPs (rs2438211, rs2449512 and rs1311).
The SNP position was emphasized in bolding characters.