Product Details
- SNP ID
-
rs4150539
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.11:18323558 on Build GRCh38
- Set Membership
-
HapMap
- Context Sequence [VIC/FAM]
- CCATTTGAAGACCCAGTCTTAAAAA[C/T]AAAAACAAAAAAAAAACTGAGTGGT
- Phenotype
-
MIM: 189972
MIM: 607521
- Polymorphism
- C/T, Transition Substitution
- Allele Nomenclature
-
- Literature Links
-
GTF2H1
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs542625140,rs561292473] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Gene Details
- Gene
- GTF2H1
- Gene Name
- general transcription factor IIH subunit 1
- Gene
- HPS5
- Gene Name
- HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
There are no transcripts associated with this gene.
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