Product Details
- SNP ID
-
rs201716618
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.19:47716701 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ACCTCGGCCCTCAAGGAGCTGTACC[A/G]CACGAAGCTGCTGCCGCTGGAGGAG
- Phenotype
-
MIM: 605890
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
EHD2
PubMed Links
Gene Details
- Gene
- EHD2
- Gene Name
- EH domain containing 2
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_014601.3 |
339 |
Missense Mutation |
CAC,CGC |
H30R |
NP_055416.2 |
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