Product Details
- SNP ID
-
rs199688319
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.12:29349126 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TCCATCTAAAGGATTAATAATTGCT[A/G]GAACAAGCTCTCCAAAAGACAAATG
- Phenotype
-
MIM: 612236
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ERGIC2
PubMed Links
Gene Details
- Gene
- ERGIC2
- Gene Name
- ERGIC and golgi 2
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_016570.2 |
813 |
Missense Mutation |
CCA,CTA |
P227L |
NP_057654.2 |
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