Product Details

SNP ID

rs145940765

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:45210526 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATCTTCACTGTCCTGGAAACTTGG[C/T]AACTAGAAAACAAGTATTTATTATC

Phenotype

MIM: 609644

Polymorphism

C/T, 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	3493	Silent Mutation	TTA,TTG	L1002L	NP_060823.3
XM_005267833.4	3493	Silent Mutation	TTA,TTG	L1002L	XP_005267890.1
XM_011536923.1	3493	Silent Mutation	TTA,TTG	L614L	XP_011535225.1
XM_017021425.1	3493	Silent Mutation	TTA,TTG	L1002L	XP_016876914.1

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