Product Details

SNP ID
rs11546738
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:30722947 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAATATGTTCCTCGTGCCATCCTG[G/T]TGGATCTAGAACCTGGGACCATGGA
Phenotype
MIM: 606998 MIM: 607593 MIM: 191130
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
FLOT1 PubMed Links

Gene Details

Gene
FLOT1
Gene Name
flotillin 1
There are no transcripts associated with this gene.

Gene
MDC1
Gene Name
mediator of DNA damage checkpoint 1
There are no transcripts associated with this gene.

Gene
MDC1-AS1
Gene Name
MDC1 antisense RNA 1
There are no transcripts associated with this gene.

Gene
TUBB
Gene Name
tubulin beta class I
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001293212.1 586 Missense Mutation GTG,TTG V86L NP_001280141.1
NM_001293213.1 586 Missense Mutation GTG,TTG V66L NP_001280142.1
NM_001293214.1 586 Missense Mutation GTG,TTG V22L NP_001280143.1
NM_001293215.1 586 UTR 5 NP_001280144.1
NM_001293216.1 586 UTR 5 NP_001280145.1
NM_178014.3 586 Missense Mutation GTG,TTG V66L NP_821133.1

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