Product Details
- SNP ID
-
rs142219986
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:40020297 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCCAGGACTCGGTTCAGAGGGTCCC[A/G]CATGTTGACCGTGTGGAGCTGAGAG
- Phenotype
-
MIM: 138970
MIM: 607000
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CSF3
PubMed Links
Gene Details
- Gene
- CSF3
- Gene Name
- colony stimulating factor 3
There are no transcripts associated with this gene.
- Gene
- MED24
- Gene Name
- mediator complex subunit 24
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001079518.1 |
2863 |
Missense Mutation |
CGG,TGG |
R881W |
NP_001072986.1 |
NM_001267797.1 |
2863 |
Missense Mutation |
CGG,TGG |
R881W |
NP_001254726.1 |
NM_014815.3 |
2863 |
Missense Mutation |
CGG,TGG |
R894W |
NP_055630.2 |
XM_005257874.2 |
2863 |
Missense Mutation |
CGG,TGG |
R919W |
XP_005257931.1 |
XM_006722204.2 |
2863 |
Missense Mutation |
CGG,TGG |
R974W |
XP_006722267.1 |
XM_006722206.2 |
2863 |
Missense Mutation |
CGG,TGG |
R949W |
XP_006722269.1 |
XM_006722207.2 |
2863 |
Missense Mutation |
CGG,TGG |
R949W |
XP_006722270.1 |
XM_011525529.2 |
2863 |
Missense Mutation |
CGG,TGG |
R993W |
XP_011523831.1 |
XM_011525530.2 |
2863 |
Missense Mutation |
CGG,TGG |
R956W |
XP_011523832.1 |
XM_011525531.2 |
2863 |
Missense Mutation |
CGG,TGG |
R937W |
XP_011523833.1 |
XM_011525532.2 |
2863 |
Missense Mutation |
CGG,TGG |
R968W |
XP_011523834.1 |
XM_011525533.2 |
2863 |
Missense Mutation |
CGG,TGG |
R968W |
XP_011523835.1 |
XM_011525534.2 |
2863 |
Missense Mutation |
CGG,TGG |
R925W |
XP_011523836.1 |
XM_011525535.2 |
2863 |
Missense Mutation |
CGG,TGG |
R924W |
XP_011523837.1 |
XM_011525536.2 |
2863 |
Missense Mutation |
CGG,TGG |
R913W |
XP_011523838.1 |
XM_011525538.2 |
2863 |
Missense Mutation |
CGG,TGG |
R852W |
XP_011523840.1 |
XM_017025458.1 |
2863 |
Missense Mutation |
CGG,TGG |
R956W |
XP_016880947.1 |
XM_017025459.1 |
2863 |
Missense Mutation |
CGG,TGG |
R937W |
XP_016880948.1 |
XM_017025460.1 |
2863 |
Missense Mutation |
CGG,TGG |
R913W |
XP_016880949.1 |
XM_017025461.1 |
2863 |
Missense Mutation |
CGG,TGG |
R938W |
XP_016880950.1 |
XM_017025462.1 |
2863 |
Missense Mutation |
CGG,TGG |
R912W |
XP_016880951.1 |
XM_017025463.1 |
2863 |
Missense Mutation |
CGG,TGG |
R912W |
XP_016880952.1 |
XM_017025464.1 |
2863 |
Missense Mutation |
CGG,TGG |
R906W |
XP_016880953.1 |
XM_017025465.1 |
2863 |
Missense Mutation |
CGG,TGG |
R931W |
XP_016880954.1 |
XM_017025466.1 |
2863 |
Missense Mutation |
CGG,TGG |
R894W |
XP_016880955.1 |
XM_017025467.1 |
2863 |
Missense Mutation |
CGG,TGG |
R893W |
XP_016880956.1 |
XM_017025468.1 |
2863 |
Missense Mutation |
CGG,TGG |
R893W |
XP_016880957.1 |
XM_017025469.1 |
2863 |
Missense Mutation |
CGG,TGG |
R840W |
XP_016880958.1 |
XM_017025470.1 |
2863 |
Missense Mutation |
CGG,TGG |
R797W |
XP_016880959.1 |
XM_017025471.1 |
2863 |
Intron |
|
|
XP_016880960.1 |
- Gene
- MIR6884
- Gene Name
- microRNA 6884
There are no transcripts associated with this gene.
- Gene
- SNORD124
- Gene Name
- small nucleolar RNA, C/D box 124
There are no transcripts associated with this gene.
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