Product Details

SNP ID
rs111589936
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:17300054 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTAGAATCAGAGCAGAATCTTCATC[A/G]CCTTGTGAAGGGCTCCGGGATGGAA
Phenotype
MIM: 603562 MIM: 609927
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MTMR7 PubMed Links

Gene Details

Gene
MTMR7
Gene Name
myotubularin related protein 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004686.4 1719 Silent Mutation GGC,GGT G597G NP_004677.3
XM_006716414.3 1719 Intron XP_006716477.2
XM_011544692.2 1719 Silent Mutation GGC,GGT G376G XP_011542994.1
XM_011544693.2 1719 Intron XP_011542995.1
XM_017013956.1 1719 Silent Mutation GGC,GGT G309G XP_016869445.1
Gene
VPS37A
Gene Name
VPS37A, ESCRT-I subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145152.1 1719 Intron NP_001138624.1
NM_152415.2 1719 Intron NP_689628.2
XM_005273400.2 1719 Intron XP_005273457.1
XM_005273401.2 1719 Intron XP_005273458.1
XM_006716286.1 1719 Intron XP_006716349.1
XM_017013021.1 1719 Intron XP_016868510.1
XM_017013022.1 1719 Intron XP_016868511.1
XM_017013023.1 1719 Intron XP_016868512.1
XM_017013024.1 1719 Intron XP_016868513.1
XM_017013025.1 1719 Intron XP_016868514.1
XM_017013026.1 1719 Intron XP_016868515.1

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