Product Details
- SNP ID
-
hCV86362683
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.12:6915917 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GGAGGTGGATCTCTATACTGCCAAA[G/T]GTAATGGGTGTGGCATGGGCCTTCC
- Phenotype
-
MIM: 607462
MIM: 131360
- Polymorphism
- G/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
ATN1
PubMed Links
Gene Details
- Gene
- ATN1
- Gene Name
- atrophin 1
There are no transcripts associated with this gene.
- Gene
- ENO2
- Gene Name
- enolase 2
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001975.2 |
307 |
Missense Mutation |
GGT,TGT |
G29C |
NP_001966.1 |
- Gene
- LRRC23
- Gene Name
- leucine rich repeat containing 23
There are no transcripts associated with this gene.
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