Snp Converter Exercise

The Mutalyzer SnpConverter helps to convert a dbSNP rsID to the HGVS sequence variation description listed in dbSNP.

1. Paste the text rs9919552 into the submission field.

2. Press the Submit button.

The result lists all the HGVS sequence variation descriptions present in dbSNP for the corresponding rs number. In general db SNP will describe the variant using different reference sequences:

a) Chromosomal reference sequences starting with NC_.

b) RefSeq Gene reference sequences starting with NG_.

c) RefSeq Transcript reference sequences starting with NM_ or NR_.

d) RefSeq Protein reference sequences starting with NP_.

Please note that dbSNP deviates from the standard nomenclature in its use of p.Ser68= for synonymous changes.

e) RefSeq Primary Assembly Contig reference sequences starting with NT_.

f) RefSeq Alternative Assembly scaffold reference sequences starting with NW_.

In case of variants overlapping more than one gene, the corresponding RefSeq Gene, Transcript and Protein descriptions may be shown.

Warning: In case of overlapping genes, depending on the position of the variant, the RefSeq Gene variant description might be of a different gene than that of the RefSeq Transcript!

Please note that Mutalyzer's [SnpConverter SnpConverter] does not check the validity of the dbSNP sequence variation description. This should be done separately using Mutalyzer's Name Checker.