Product Details

SNP ID
rs222401
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:150704044 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCAAATGTATTTTCTCTTATTCTT[C/T]GTACTAAGTACAACTAAAAACCTTG
Phenotype
MIM: 300171
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MTMR1 PubMed Links

Gene Details

Gene
MTMR1
Gene Name
myotubularin related protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001306144.1 Intron NP_001293073.1
NM_001306145.1 Intron NP_001293074.1
NM_003828.3 Intron NP_003819.1
XM_005274765.3 Intron XP_005274822.1
XM_005274766.3 Intron XP_005274823.1
XM_005274767.3 Intron XP_005274824.1
XM_006724855.3 Intron XP_006724918.1
XM_011531209.2 Intron XP_011529511.1
XM_011531210.2 Intron XP_011529512.1
XM_017029920.1 Intron XP_016885409.1
XM_017029921.1 Intron XP_016885410.1
XM_017029922.1 Intron XP_016885411.1
XM_017029923.1 Intron XP_016885412.1
XM_017029924.1 Intron XP_016885413.1

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