Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TTTGGTATCAGTTGCAGTGTACCAG[G/T]CTGCAGGGCCTGTGGGGGGAGAGAT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300413 | ||||||||||||||||||||
Literature Links: |
MBNL3 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
MBNL3 - muscleblind like splicing regulator 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001170701.1 | 9102 | Missense Mutation | ACT,CCT | T,P 211 | NP_001164172.1 | |
NM_001170702.1 | 9102 | Missense Mutation | ACT,CCT | T,P 211 | NP_001164173.1 | |
NM_001170703.1 | 9102 | Missense Mutation | ACT,CCT | T,P 165 | NP_001164174.1 | |
NM_001170704.1 | 9102 | Missense Mutation | ACT,CCT | T,P 165 | NP_001164175.1 | |
NM_018388.3 | 9102 | Missense Mutation | ACT,CCT | T,P 261 | NP_060858.2 | |
NM_133486.2 | 9102 | Intron | NP_597846.1 | |||
XM_005262431.3 | 9102 | Missense Mutation | ACT,CCT | T,P 261 | XP_005262488.1 | |
XM_005262434.3 | 9102 | Missense Mutation | ACT,CCT | T,P 261 | XP_005262491.1 | |
XM_005262436.3 | 9102 | Missense Mutation | ACT,CCT | T,P 219 | XP_005262493.1 | |
XM_005262437.3 | 9102 | Missense Mutation | ACT,CCT | T,P 211 | XP_005262494.1 | |
XM_005262438.3 | 9102 | Missense Mutation | ACT,CCT | T,P 211 | XP_005262495.1 | |
XM_005262439.3 | 9102 | Missense Mutation | ACT,CCT | T,P 165 | XP_005262496.1 | |
XM_005262440.3 | 9102 | Missense Mutation | ACT,CCT | T,P 165 | XP_005262497.1 | |
XM_005262441.3 | 9102 | Missense Mutation | ACT,CCT | T,P 165 | XP_005262498.1 | |
XM_005262442.3 | 9102 | Missense Mutation | ACT,CCT | T,P 165 | XP_005262499.1 | |
XM_011531364.2 | 9102 | Missense Mutation | ACT,CCT | T,P 143 | XP_011529666.1 | |
XM_017029632.1 | 9102 | Missense Mutation | ACT,CCT | T,P 261 | XP_016885121.1 | |
XM_017029633.1 | 9102 | Missense Mutation | ACT,CCT | T,P 261 | XP_016885122.1 | |
XM_017029634.1 | 9102 | Missense Mutation | ACT,CCT | T,P 261 | XP_016885123.1 | |
XM_017029635.1 | 9102 | Missense Mutation | ACT,CCT | T,P 261 | XP_016885124.1 | |
XM_017029636.1 | 9102 | Missense Mutation | ACT,CCT | T,P 261 | XP_016885125.1 | |
XM_017029637.1 | 9102 | Missense Mutation | ACT,CCT | T,P 261 | XP_016885126.1 | |
XM_017029638.1 | 9102 | Missense Mutation | ACT,CCT | T,P 165 | XP_016885127.1 | |
XM_017029639.1 | 9102 | Missense Mutation | ACT,CCT | T,P 165 | XP_016885128.1 |
RAP2C-AS1 - RAP2C antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |