Product Details
- SNP ID
-
rs141170796
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.X:1285817 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCACCAGCCTCTAGTCTCAATGTGA[A/G]GTTTGACTCCAGGACGATGAATTTA
- Phenotype
-
MIM: 306250
MIM: 425000
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CSF2RA
PubMed Links
Gene Details
- Gene
- CSF2RA
- Gene Name
- colony stimulating factor 2 receptor alpha subunit
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001161529.1 |
277 |
Missense Mutation |
AAG,AGG |
K39R |
NP_001155001.1 |
NM_001161530.1 |
277 |
Intron |
|
|
NP_001155002.1 |
NM_001161531.1 |
277 |
Missense Mutation |
AAG,AGG |
K39R |
NP_001155003.1 |
NM_001161532.1 |
277 |
Intron |
|
|
NP_001155004.1 |
NM_006140.4 |
277 |
Missense Mutation |
AAG,AGG |
K39R |
NP_006131.2 |
NM_172245.2 |
277 |
Missense Mutation |
AAG,AGG |
K39R |
NP_758448.1 |
NM_172246.2 |
277 |
Missense Mutation |
AAG,AGG |
K39R |
NP_758449.1 |
NM_172247.2 |
277 |
Intron |
|
|
NP_758450.1 |
NM_172249.2 |
277 |
Intron |
|
|
NP_758452.1 |
XM_011546165.2 |
277 |
Missense Mutation |
AAG,AGG |
K39R |
XP_011544467.1 |
XM_011546166.1 |
277 |
Missense Mutation |
AAG,AGG |
K39R |
XP_011544468.1 |
XM_011546167.2 |
277 |
Missense Mutation |
AAG,AGG |
K39R |
XP_011544469.1 |
XM_011546168.2 |
277 |
Missense Mutation |
AAG,AGG |
K39R |
XP_011544470.1 |
XM_011546169.1 |
277 |
Missense Mutation |
AAG,AGG |
K39R |
XP_011544471.1 |
XM_011546170.2 |
277 |
Missense Mutation |
AAG,AGG |
K39R |
XP_011544472.1 |
XM_011546173.1 |
277 |
Intron |
|
|
XP_011544475.1 |
XM_011546174.2 |
277 |
Missense Mutation |
AAG,AGG |
K39R |
XP_011544476.1 |
XM_011546175.2 |
277 |
Missense Mutation |
AAG,AGG |
K39R |
XP_011544477.1 |
XM_017029287.1 |
277 |
Missense Mutation |
AAG,AGG |
K39R |
XP_016884776.1 |
XM_017029288.1 |
277 |
Missense Mutation |
AAG,AGG |
K39R |
XP_016884777.1 |
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