Product Details

SNP ID

rs145376542

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:30834478 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAATATTAAAACTGAAAATGAAGCT[C/T]CAATTGAAATTAGTAGCGACGATAG

Phenotype

MIM: 609534 MIM: 614853

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

ATAD5 PubMed Links

Additional Information

For this assay, SNP(s) [rs11080134] 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

ATAD5

Gene Name

ATPase family, AAA domain containing 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024857.4	796	Missense Mutation	CCA,TCA	P133S	NP_079133.3
XM_011525269.2	796	Missense Mutation	CCA,TCA	P133S	XP_011523571.1
XM_011525270.2	796	Missense Mutation	CCA,TCA	P133S	XP_011523572.1
XM_011525273.2	796	Missense Mutation	CCA,TCA	P133S	XP_011523575.1
XM_011525274.2	796	Intron			XP_011523576.1
XM_017025111.1	796	Missense Mutation	CCA,TCA	P119S	XP_016880600.1

Gene

CRLF3

Gene Name

cytokine receptor like factor 3

There are no transcripts associated with this gene.

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