Product Details
- SNP ID
-
rs200149009
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.9:3225268 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TTCTTCATCCATTTCACTTTCTACT[C/T]CACTGCCTTCATCTGCACAAACAAA
- Phenotype
-
MIM: 601337
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
RFX3
PubMed Links
Gene Details
- Gene
- RFX3
- Gene Name
- regulatory factor X3
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001282116.1 |
2345 |
Missense Mutation |
GAA,GGA |
E675G |
NP_001269045.1 |
NM_001282117.1 |
2345 |
Intron |
|
|
NP_001269046.1 |
NM_002919.3 |
2345 |
Intron |
|
|
NP_002910.1 |
NM_134428.2 |
2345 |
Missense Mutation |
GAA,GGA |
E675G |
NP_602304.1 |
XM_006716840.1 |
2345 |
Missense Mutation |
GAA,GGA |
E706G |
XP_006716903.1 |
XM_006716843.1 |
2345 |
Missense Mutation |
GAA,GGA |
E696G |
XP_006716906.1 |
XM_006716844.1 |
2345 |
Missense Mutation |
GAA,GGA |
E696G |
XP_006716907.1 |
XM_006716845.2 |
2345 |
Missense Mutation |
GAA,GGA |
E696G |
XP_006716908.1 |
XM_006716847.3 |
2345 |
Missense Mutation |
GAA,GGA |
E418G |
XP_006716910.1 |
XM_011517998.1 |
2345 |
Missense Mutation |
GAA,GGA |
E696G |
XP_011516300.1 |
XM_011517999.1 |
2345 |
Missense Mutation |
GAA,GGA |
E696G |
XP_011516301.1 |
XM_011518000.1 |
2345 |
Missense Mutation |
GAA,GGA |
E671G |
XP_011516302.1 |
XM_011518001.1 |
2345 |
Missense Mutation |
GAA,GGA |
E613G |
XP_011516303.1 |
XM_017015000.1 |
2345 |
Missense Mutation |
GAA,GGA |
E696G |
XP_016870489.1 |
XM_017015001.1 |
2345 |
Missense Mutation |
GAA,GGA |
E650G |
XP_016870490.1 |
XM_017015002.1 |
2345 |
Missense Mutation |
GAA,GGA |
E427G |
XP_016870491.1 |
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