[Genome] Non-matching of SNP flanking sequence to its stated position
John Darlow
John.Darlow at olhsc.ie
Wed Dec 13 10:10:40 PST 2006
Exon 1 of TEMEM12 (recently renamed CLRN3) is stated to run from
Chr10:129,566,104-129,566,495 and to have the sequence
129,566,104
| 110 120 130 140 150
| | | | | |
AATGTCCATTAGCATAACCCTTCCTCAGGAAGAGTGAGATTTTATATTTG
160
|
ACAATAAAGTGTTAGACTCCATTTCTAAATACCAGACTTCAAAAGATAAG
|
129,566,159
GTTCAAAAGTGTTATAAGAAGATATTCCTTTTTTTGTCCTAGAGAACTTA
TTTTCCTGTGAAAATGCCTACCACAAAGAAGACATTGATGTTCTTATCAA
GCTTTTTCACCAGCCTTGGGTCCTTCATTGTAATTTGCTCTATTCTTGGG
ACACAAGCATGGATCACCAGTACAATTGCTGTTAGAGACTCTGCTTCAAA
TGGGAGCATTTTCATCACTTACGGACTTTTTCGTGGGGAGAGTAGTGAAG
AATTGAGTCACGGACTTGCAGAACCAAAGAAAAAGTTTGCAG
The SNP rs2296785 is supposed to be within this exon, at 129,566,159 but
it is supposed to C or T in the context:
AGCACTTGGTCCTGGAAAGGTGAGTTCTGAAACCCTCTGTTCCCAGAAGTCTTCATGCATAGAGTAGAATAA
AAATACCCAGTCCCTCCTGAGGGGAATG
AGATCATAGGCACTGAAGTGCTTTGAGATACTCAAAGAAAAGAAACATGACACAGCCTTTTATTATTTCAGA
TCGTGAGACCAGGTCAGAAGGGTCGTTA
Y
GCTCATCATGATACTACTGCTTTGAATACCACACAGACCAGCGACATTTCCCATTCATTTCCCCAACCTTGT
GGGAAAAATTTTCAGGAGTACAGCATCA
ATGAAGAACACAGTGTCATGAAACACAAATGCTGTCACAGATGACAGTCACGTTACCATGCTGAATTGTCCA
GAGAAGCTAACCAGTTACTACTCAGGGC
but I can find no match between these sequences. I tried the next SNP
along, rs34656572, which is supposed to be in the first intron at
129,566,510 but I likewise found no match for its context.
Can you please explain this and tell me how I can discover the true
relationship of SNPs to genes. I'm trying to relate genes to the maximum
linkage positions of a genome scan and work out what to do next.
John Darlow
Dr. John M. Darlow
National Centre for Medical Genetics
Our Lady's Children's Hospital
Crumlin
Dublin 12
Ireland
More information about the Genome
mailing list