Product Details

SNP ID
rs6790534
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:9650465 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
CGTGGTTTTGGCAGCTTTAGCACCA[A/T]GTTTTCCAGTGGAATTCTGTTCCAT
Phenotype
MIM: 611089
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
MTMR14 PubMed Links

Gene Details

Gene
MTMR14
Gene Name
myotubularin related protein 14
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001077525.2 415 Intron NP_001070993.1
NM_001077526.2 415 Intron NP_001070994.1
NM_022485.4 415 Intron NP_071930.2
XM_005265400.1 415 Intron XP_005265457.1
XM_011534012.1 415 Intron XP_011532314.1
XM_011534013.1 415 Intron XP_011532315.1
XM_017007034.1 415 Missense Mutation AAG,ATG K55M XP_016862523.1
XM_017007035.1 415 Missense Mutation AAG,ATG K55M XP_016862524.1
XM_017007036.1 415 Missense Mutation AAG,ATG K55M XP_016862525.1
XM_017007037.1 415 Missense Mutation AAG,ATG K55M XP_016862526.1
XM_017007038.1 415 Intron XP_016862527.1
XM_017007039.1 415 Missense Mutation AAG,ATG K55M XP_016862528.1
XM_017007040.1 415 Missense Mutation AAG,ATG K55M XP_016862529.1
XM_017007041.1 415 Intron XP_016862530.1
XM_017007042.1 415 Intron XP_016862531.1
XM_017007043.1 415 Intron XP_016862532.1
XM_017007044.1 415 Intron XP_016862533.1
XM_017007045.1 415 Intron XP_016862534.1

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