Product Details

SNP ID
rs138285226
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:45204116 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCATATTTTCTCATTTTACTATGCA[A/G]AATCAGAGTTCGAAAAATAATAATC
Phenotype
MIM: 609644
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
FANCM PubMed Links

Gene Details

Gene
FANCM
Gene Name
Fanconi anemia complementation group M
There are no transcripts associated with this gene.

Gene
MIS18BP1
Gene Name
MIS18 binding protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018353.4 3879 Missense Mutation TCT,TTT S1131F NP_060823.3
XM_005267833.4 3879 Missense Mutation TCT,TTT S1131F XP_005267890.1
XM_011536923.1 3879 Missense Mutation TCT,TTT S743F XP_011535225.1
XM_017021425.1 3879 Missense Mutation TCT,TTT S1131F XP_016876914.1

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