Product Details
- SNP ID
-
rs200982385
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.X:74740509 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TCAGGGGAGTAGAATATGTTGGGAT[C/T]CCCATGGTGCTCCATGGGTTCCCAA
- Phenotype
-
MIM: 300524
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
KIAA2022
PubMed Links
Gene Details
- Gene
- KIAA2022
- Gene Name
- KIAA2022
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001008537.2 |
4665 |
Missense Mutation |
AAT,GAT |
N1350D |
NP_001008537.1 |
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