Product Details
- SNP ID
-
rs200623327
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.X:132382224 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AGCGAACGGAACGCTGGTGGCAGGT[A/G]TTGTTGCTGCAGACACAGTGGTAGG
- Phenotype
-
MIM: 300413
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
MBNL3
PubMed Links
Gene Details
- Gene
- MBNL3
- Gene Name
- muscleblind like splicing regulator 3
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001170701.1 |
9292 |
Missense Mutation |
ACA,ATA |
T286I |
NP_001164172.1 |
NM_001170702.1 |
9292 |
Missense Mutation |
ACA,ATA |
T274I |
NP_001164173.1 |
NM_001170703.1 |
9292 |
Missense Mutation |
ACA,ATA |
T240I |
NP_001164174.1 |
NM_001170704.1 |
9292 |
Missense Mutation |
ACA,ATA |
T240I |
NP_001164175.1 |
NM_018388.3 |
9292 |
Missense Mutation |
ACA,ATA |
T336I |
NP_060858.2 |
NM_133486.2 |
9292 |
Missense Mutation |
ACA,ATA |
T301I |
NP_597846.1 |
XM_005262431.3 |
9292 |
Missense Mutation |
ACA,ATA |
T336I |
XP_005262488.1 |
XM_005262434.3 |
9292 |
Missense Mutation |
ACA,ATA |
T336I |
XP_005262491.1 |
XM_005262436.3 |
9292 |
Missense Mutation |
ACA,ATA |
T294I |
XP_005262493.1 |
XM_005262437.3 |
9292 |
Missense Mutation |
ACA,ATA |
T286I |
XP_005262494.1 |
XM_005262438.3 |
9292 |
Missense Mutation |
ACA,ATA |
T274I |
XP_005262495.1 |
XM_005262439.3 |
9292 |
Missense Mutation |
ACA,ATA |
T240I |
XP_005262496.1 |
XM_005262440.3 |
9292 |
Missense Mutation |
ACA,ATA |
T240I |
XP_005262497.1 |
XM_005262441.3 |
9292 |
Missense Mutation |
ACA,ATA |
T240I |
XP_005262498.1 |
XM_005262442.3 |
9292 |
Missense Mutation |
ACA,ATA |
T240I |
XP_005262499.1 |
XM_011531364.2 |
9292 |
Missense Mutation |
ACA,ATA |
T218I |
XP_011529666.1 |
XM_017029632.1 |
9292 |
Missense Mutation |
ACA,ATA |
T336I |
XP_016885121.1 |
XM_017029633.1 |
9292 |
Missense Mutation |
ACA,ATA |
T336I |
XP_016885122.1 |
XM_017029634.1 |
9292 |
Missense Mutation |
ACA,ATA |
T324I |
XP_016885123.1 |
XM_017029635.1 |
9292 |
Missense Mutation |
ACA,ATA |
T336I |
XP_016885124.1 |
XM_017029636.1 |
9292 |
Missense Mutation |
ACA,ATA |
T336I |
XP_016885125.1 |
XM_017029637.1 |
9292 |
Missense Mutation |
ACA,ATA |
T324I |
XP_016885126.1 |
XM_017029638.1 |
9292 |
Missense Mutation |
ACA,ATA |
T240I |
XP_016885127.1 |
XM_017029639.1 |
9292 |
Missense Mutation |
ACA,ATA |
T240I |
XP_016885128.1 |
- Gene
- RAP2C-AS1
- Gene Name
- RAP2C antisense RNA 1
There are no transcripts associated with this gene.
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