Product Details
- SNP ID
-
rs12852407
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.X:47176541 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TGGGCCAGAAGGTGTCGATGCACTA[A/C]AGTGACCCCAAGCCCAAGATCAATG
- Phenotype
-
MIM: 300080
- Polymorphism
- A/C, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
RBM10
PubMed Links
Gene Details
- Gene
- RBM10
- Gene Name
- RNA binding motif protein 10
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001204466.1 |
706 |
Nonsense Mutation |
TAA,TAC |
*129Y |
NP_001191395.1 |
NM_001204467.1 |
706 |
Nonsense Mutation |
TAA,TAC |
*206Y |
NP_001191396.1 |
NM_001204468.1 |
706 |
Nonsense Mutation |
TAA,TAC |
*271Y |
NP_001191397.1 |
NM_005676.4 |
706 |
Nonsense Mutation |
TAA,TAC |
*206Y |
NP_005667.2 |
NM_152856.2 |
706 |
Nonsense Mutation |
TAA,TAC |
*129Y |
NP_690595.1 |
XM_005272677.4 |
706 |
Nonsense Mutation |
TAA,TAC |
*271Y |
XP_005272734.1 |
XM_005272678.4 |
706 |
Nonsense Mutation |
TAA,TAC |
*194Y |
XP_005272735.1 |
XM_005272679.4 |
706 |
Nonsense Mutation |
TAA,TAC |
*194Y |
XP_005272736.1 |
XM_006724563.1 |
706 |
Nonsense Mutation |
TAA,TAC |
*3Y |
XP_006724626.1 |
XM_011543989.2 |
706 |
Intron |
|
|
XP_011542291.1 |
XM_017029884.1 |
706 |
Nonsense Mutation |
TAA,TAC |
*3Y |
XP_016885373.1 |
XM_017029885.1 |
706 |
Nonsense Mutation |
TAA,TAC |
*3Y |
XP_016885374.1 |
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