Product Details
- SNP ID
-
hCV25618643
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.12:45923021 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CAATTTTACAGCAGCATTAGAGGCT[C/T]TGCTGTGACTTGATGACGAAGTATT
- Phenotype
-
MIM: 603668
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
SCAF11
PubMed Links
Gene Details
- Gene
- SCAF11
- Gene Name
- SR-related CTD associated factor 11
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_004719.2 |
4327 |
Missense Mutation |
AAA,AGA |
K1347R |
NP_004710.2 |
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