Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GGCTTCATCAGAATCCCGGTCCTTG[C/T]CACTATCTTCACTCGGTGCATGCTC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603562 MIM: 609927 | ||||||||||||||||||||
Literature Links: |
MTMR7 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 |
MTMR7 - myotubularin related protein 7 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004686.4 | 1868 | Missense Mutation | NP_004677.3 | |||
XM_006716414.3 | 1868 | Intron | XP_006716477.2 | |||
XM_011544692.2 | 1868 | Missense Mutation | XP_011542994.1 | |||
XM_011544693.2 | 1868 | Intron | XP_011542995.1 | |||
XM_017013956.1 | 1868 | Missense Mutation | XP_016869445.1 |
VPS37A - VPS37A, ESCRT-I subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001145152.1 | 1868 | Intron | NP_001138624.1 | |||
NM_152415.2 | 1868 | Intron | NP_689628.2 | |||
XM_005273400.2 | 1868 | Intron | XP_005273457.1 | |||
XM_005273401.2 | 1868 | Intron | XP_005273458.1 | |||
XM_006716286.1 | 1868 | Intron | XP_006716349.1 | |||
XM_017013021.1 | 1868 | Intron | XP_016868510.1 | |||
XM_017013022.1 | 1868 | Intron | XP_016868511.1 | |||
XM_017013023.1 | 1868 | Intron | XP_016868512.1 | |||
XM_017013024.1 | 1868 | Intron | XP_016868513.1 | |||
XM_017013025.1 | 1868 | Intron | XP_016868514.1 | |||
XM_017013026.1 | 1868 | Intron | XP_016868515.1 |