Product Details

SNP ID

rs200613112

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.6:31615536 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACCCCACAGGAGGAAAAGCTTTCG[A/G]ACTGCTGAAGGCCCAGCAGGAAGAG

Phenotype

MIM: 601833 MIM: 142580

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

AIF1 PubMed Links

Additional Information

For this assay, SNP(s) [rs2736182] 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

AIF1

Gene Name

allograft inflammatory factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318970.1	101	UTR 5			NP_001305899.1
NM_001623.4	101	Missense Mutation	GAA,GGA	E14G	NP_001614.3
NM_032955.2	101	Intron			NP_116573.1
XM_005248870.4	101	Missense Mutation	GAA,GGA	E14G	XP_005248927.1
XM_017010332.1	101	UTR 5			XP_016865821.1

Gene

PRRC2A

Gene Name

proline rich coiled-coil 2A

There are no transcripts associated with this gene.

Gene

SNORA38

Gene Name

small nucleolar RNA, H/ACA box 38

There are no transcripts associated with this gene.

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