Product Details

SNP ID

rs141300146

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.16:89738217 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCGAGCCCCTCTGTGACCACAGAG[G/T]GCCAGGCGGTGAAGCCCGAACCCAC

Phenotype

MIM: 607139 MIM: 608460

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

FANCA PubMed Links

Additional Information

For this assay, SNP(s) [rs17227424] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

FANCA

Gene Name

Fanconi anemia complementation group A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000135.2	4798	UTR 3			NP_000126.2
NM_001018112.1	4798	Intron			NP_001018122.1
NM_001286167.1	4798	UTR 3			NP_001273096.1
XM_005256294.4	4798	Intron			XP_005256351.1
XM_011522945.2	4798	Intron			XP_011521247.1
XM_011522946.2	4798	Intron			XP_011521248.1
XM_011522947.2	4798	Intron			XP_011521249.1
XM_011522948.2	4798	Intron			XP_011521250.1
XM_017023044.1	4798	Intron			XP_016878533.1
XM_017023045.1	4798	Intron			XP_016878534.1
XM_017023046.1	4798	Intron			XP_016878535.1

Gene

ZNF276

Gene Name

zinc finger protein 276

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001113525.1	4798	Missense Mutation	GGC,TGC	G606C	NP_001106997.1
NM_152287.3	4798	Missense Mutation	GGC,TGC	G531C	NP_689500.2
XM_005256324.3	4798	Missense Mutation	GGC,TGC	G589C	XP_005256381.1
XM_005256328.3	4798	Missense Mutation	GGC,TGC	G392C	XP_005256385.1
XM_017023889.1	4798	Intron			XP_016879378.1
XM_017023890.1	4798	Missense Mutation	GGC,TGC	G392C	XP_016879379.1

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