Product Details
- SNP ID
-
rs138118908
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.19:4283059 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CAGTGTCCCTGGCCTCCTAGAACTT[A/C]CCGGCAGAGGGGTGCAGCTCTATGA
- Phenotype
-
MIM: 610481
MIM: 614715
- Polymorphism
- A/C, Transversion Substitution
- Allele Nomenclature
-
- Literature Links
-
SHD
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs2287714] 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
- SHD
- Gene Name
- Src homology 2 domain containing transforming protein D
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_020209.3 |
1872 |
Missense Mutation |
ACC,CCC |
T137P |
NP_064594.3 |
- Gene
- TMIGD2
- Gene Name
- transmembrane and immunoglobulin domain containing 2
There are no transcripts associated with this gene.
View Full Product Details