Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AAGAGGGACTCTTACCATGTTAGTA[G/T]CTTTTTGATGAGGTGAATTGAAGAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606501 | ||||||||||||||||||||
Literature Links: |
MTMR12 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 |
MTMR12 - myotubularin related protein 12 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001040446.2 | 1672 | Missense Mutation | GAT,GCT | D,A 501 | NP_001035536.1 | |
NM_001294343.1 | 1672 | Missense Mutation | GAT,GCT | D,A 501 | NP_001281272.1 | |
NM_001294344.1 | 1672 | Intron | NP_001281273.1 | |||
XM_005248313.3 | 1672 | Missense Mutation | GAT,GCT | D,A 501 | XP_005248370.1 | |
XM_011514057.1 | 1672 | Missense Mutation | GAT,GCT | D,A 533 | XP_011512359.1 | |
XM_011514058.2 | 1672 | Missense Mutation | GAT,GCT | D,A 533 | XP_011512360.1 | |
XM_011514059.1 | 1672 | Intron | XP_011512361.1 | |||
XM_011514060.1 | 1672 | Intron | XP_011512362.1 | |||
XM_017009589.1 | 1672 | Intron | XP_016865078.1 | |||
XM_017009590.1 | 1672 | Missense Mutation | GAT,GCT | D,A 330 | XP_016865079.1 | |
XM_017009591.1 | 1672 | Missense Mutation | GAT,GCT | D,A 330 | XP_016865080.1 | |
XM_017009592.1 | 1672 | Missense Mutation | GAT,GCT | D,A 298 | XP_016865081.1 | |
XM_017009593.1 | 1672 | Missense Mutation | GAT,GCT | D,A 298 | XP_016865082.1 | |
XM_017009594.1 | 1672 | Missense Mutation | GAT,GCT | D,A 298 | XP_016865083.1 | |
XM_017009595.1 | 1672 | Missense Mutation | GAT,GCT | D,A 298 | XP_016865084.1 | |
XM_017009596.1 | 1672 | Intron | XP_016865085.1 |