Product Details
- SNP ID
-
hCV27338098
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.6:136822725 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TGCGGACGCCGGGACGCCACGGCTA[A/C]GCCGCCGAGTTCTCCCCGTACCTGC
- Phenotype
-
MIM: 601757
- Polymorphism
- A/C, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
PEX7
PubMed Links
Gene Details
- Gene
- PEX7
- Gene Name
- peroxisomal biogenesis factor 7
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_000288.3 |
162 |
Nonsense Mutation |
TAA,TAC |
*20Y |
NP_000279.1 |
View Full Product Details