Product Details
- SNP ID
-
rs104894743
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.X:25012937 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ACGCGCATACCTGGTGAAGACGTCC[A/G]GGTAGTGCGTCTTCTGGAAGGCCCG
- Phenotype
-
MIM: 300382
- Polymorphism
- A/G, Transition Substitution
- Allele Nomenclature
-
- Literature Links
-
ARX
PubMed Links
Gene Details
- Gene
- ARX
- Gene Name
- aristaless related homeobox
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_139058.2 |
1269 |
Missense Mutation |
CCG,CTG |
P353L |
NP_620689.1 |
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