The mtDNA SNP Haplogroup H Subclade Test Panel examines 17 unique SNP markers in the coding region of the mtDNA.  These 17 SNP markers define up to 16 different subclades of Haplogroup H (Subclades 1 to 16).  The chart below lists the 17 SNP markers that are included in this panel and the Subclades that they define.

The diagram below is a phylogenetic tree illustrating the various subclades of H that are known.  The diagram also shows where each of the 17 SNP fall in the tree.  Click here to download a detailed copy of the Haplogroup H Subclade Map. 

The mtDNA SNP Backbone Test Panel examines 20 SNP markers in the coding region of the mtDNA.  These 20 SNP markers are the defining markers for determining an individual’s mtDNA haplogroup when used together with the HVR1 and HVR2 results.  The chart below lists the 20 markers that are included in this panel, and the haplogroups that they define. 

The diagram below is a phylogenetic tree illustrating how all people living today share a common maternal ancestor, the “mitochondrial eve”.  The diagram also shows where each mtDNA SNP marker appears in the tree.  Click here to download a detailed copy of the mtDNA Haplogroup Map. 

The mtDNA HVR1 region spans positions 16,000 to 16,500 of the mtDNA and contains an abundance of SNP markers which provide extremely useful information for determining an individual’s maternal ancestry.  The mtDNA HVR1 Test uses a method known as “sequencing” to read the genetic code of the entire HVR1 region. 

Once your mtDNA HVR1 sequence is known, it is compared to a reference sequence known as the “Cambridge Reference Sequence” (CRS).  Click here to read more about the CRS.  Any region of your sequence that differs from the CRS is considered a SNP mutation.  Your mutations are presented to you in a mutation table after your test is completed.  Your set of mtDNA SNP markers is unique to you and your maternal line and contains valuable information about your maternal ancestors.  Your mtDNA results allow you to trace your deep maternal ancestry:

1.  Tracing maternal ancestry by direct comparison - compare your mtDNA profile to others

• Compare with family and friends
• Compare to other Genebase Users
• Compare to different ethnic groups

2.  Tracing deep maternal ancestry - determine your mtDNA haplogroup

Markers in the HVR1 region which are useful for Haplogroup determination are indicated in “blue” in the phylogenetic tree below.  Click here to download a detailed copy of the mtDNA Haplogroup Map. 

Region:   16001 - 16520

Like the HVR1 region, the HVR2 region of the mtDNA contains an abundance of SNP markers and is a rich source of ancestral markers for individuals wishing to trace their maternal ancestry.  Not only does it supplement the results of the HVR1 test when used in comparison studies, the HVR2 Test examines regions which also contain important markers for definining an individual’s mtDNA haplogroup. 

The phylogenetic tree below illustrates where some of the critical SNP markers are located.  Click here to download a detailed copy of the mtDNA Haplogroup Map. 

Region:   1 - 400