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CGGTAGTTCTCATAATGTGTCTCCC[A/G]TGTCACATCCTTCAGGTCCTGCATG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603559 MIM: 603696 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MTMR4 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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MTMR4 - myotubularin related protein 4 | ||||||
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There are no transcripts associated with this gene. |
SEPT4 - septin 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001198713.1 | 1005 | Missense Mutation | CGG,TGG | R,W 392 | NP_001185642.1 | |
NM_001256782.1 | 1005 | Missense Mutation | CGG,TGG | R,W 415 | NP_001243711.1 | |
NM_001256822.1 | 1005 | Missense Mutation | CGG,TGG | R,W 253 | NP_001243751.1 | |
NM_004574.4 | 1005 | Missense Mutation | CGG,TGG | R,W 400 | NP_004565.1 | |
NM_080415.3 | 1005 | UTR 3 | NP_536340.1 | |||
NM_080416.3 | 1005 | Missense Mutation | CGG,TGG | R,W 381 | NP_536341.1 | |
XM_006721949.2 | 1005 | Missense Mutation | CGG,TGG | R,W 405 | XP_006722012.1 | |
XM_006721950.3 | 1005 | Missense Mutation | CGG,TGG | R,W 306 | XP_006722013.1 | |
XM_006721951.2 | 1005 | Missense Mutation | CGG,TGG | R,W 301 | XP_006722014.1 | |
XM_006721952.2 | 1005 | Missense Mutation | CGG,TGG | R,W 282 | XP_006722015.1 | |
XM_006721954.2 | 1005 | Missense Mutation | CGG,TGG | R,W 253 | XP_006722017.1 | |
XM_006721955.2 | 1005 | Missense Mutation | CGG,TGG | R,W 253 | XP_006722018.1 | |
XM_011524911.1 | 1005 | Missense Mutation | CGG,TGG | R,W 253 | XP_011523213.1 | |
XM_011524912.1 | 1005 | Missense Mutation | CGG,TGG | R,W 253 | XP_011523214.1 |
SEPT4-AS1 - SEPT4 antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |