Product Details
- SNP ID
-
rs146172345
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.12:45923022 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AATTTTACAGCAGCATTAGAGGCTT[C/T]GCTGTGACTTGATGACGAAGTATTA
- 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 |
5845 |
Missense Mutation |
AAA,GAA |
K1347E |
NP_004710.2 |
XM_005269230.2 |
5845 |
Missense Mutation |
AAA,GAA |
K1347E |
XP_005269287.2 |
XM_011538984.2 |
5845 |
Missense Mutation |
AAA,GAA |
K1363E |
XP_011537286.1 |
XM_011538985.1 |
5845 |
Missense Mutation |
AAA,GAA |
K1347E |
XP_011537287.1 |
XM_017020217.1 |
5845 |
Missense Mutation |
AAA,GAA |
K1357E |
XP_016875706.1 |
XM_017020218.1 |
5845 |
Missense Mutation |
AAA,GAA |
K1357E |
XP_016875707.1 |
XM_017020219.1 |
5845 |
Missense Mutation |
AAA,GAA |
K1357E |
XP_016875708.1 |
XM_017020220.1 |
5845 |
Intron |
|
|
XP_016875709.1 |
XM_017020221.1 |
5845 |
Missense Mutation |
AAA,GAA |
K1312E |
XP_016875710.1 |
XM_017020222.1 |
5845 |
Missense Mutation |
AAA,GAA |
K1302E |
XP_016875711.1 |
XM_017020223.1 |
5845 |
Missense Mutation |
AAA,GAA |
K1295E |
XP_016875712.1 |
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