Product Details

SNP ID

rs151276683

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:35455955 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGGGTGGGGACCTCCATGGAGGGA[A/G]CTTCTCCACTGTCTGAAAGATGCCA

Phenotype

MIM: 613976

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FANCE PubMed Links

Gene Details

Gene

FANCE

Gene Name

Fanconi anemia complementation group E

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021922.2	664	Missense Mutation	ACT,GCT	T153A	NP_068741.1
XM_005248885.2	664	Missense Mutation	ACT,GCT	T153A	XP_005248942.1
XM_005248886.2	664	Missense Mutation	ACT,GCT	T153A	XP_005248943.1
XM_005248887.2	664	Missense Mutation	ACT,GCT	T153A	XP_005248944.1
XM_005248888.3	664	Missense Mutation	ACT,GCT	T153A	XP_005248945.1
XM_011514343.2	664	Missense Mutation	ACT,GCT	T55A	XP_011512645.1

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