Product Details

SNP ID

rs149133861

Assay Type

Functionally Tested

NCBI dbSNP Submissions

3

Location

Chr.1:26361689 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTGCCCCATCACCAGGGGAGTCC[C/T]GGCACTGCTCAGGCTCACTGCTCTT

Phenotype

MIM: 616775

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

AIM1L PubMed Links

Additional Information

For this assay, SNP(s) [rs11583897] 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

AIM1L

Gene Name

absent in melanoma 1-like

There are no transcripts associated with this gene.

Gene

ZNF683

Gene Name

zinc finger protein 683

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001114759.2	1794	Missense Mutation	AGG,GGG	R493G	NP_001108231.1
NM_001307925.1	1794	Missense Mutation	AGG,GGG	R513G	NP_001294854.1
NM_173574.3	1794	Missense Mutation	AGG,GGG	R493G	NP_775845.2
XM_005245828.3	1794	Missense Mutation	AGG,GGG	R521G	XP_005245885.1
XM_005245830.3	1794	Missense Mutation	AGG,GGG	R513G	XP_005245887.1
XM_005245832.3	1794	Missense Mutation	AGG,GGG	R513G	XP_005245889.1
XM_006710555.3	1794	Missense Mutation	AGG,GGG	R522G	XP_006710618.1
XM_011541198.2	1794	Missense Mutation	AGG,GGG	R513G	XP_011539500.1
XM_017000954.1	1794	Missense Mutation	AGG,GGG	R522G	XP_016856443.1
XM_017000955.1	1794	Missense Mutation	AGG,GGG	R522G	XP_016856444.1
XM_017000956.1	1794	Missense Mutation	AGG,GGG	R521G	XP_016856445.1
XM_017000957.1	1794	Missense Mutation	AGG,GGG	R502G	XP_016856446.1
XM_017000958.1	1794	UTR 3			XP_016856447.1
XM_017000959.1	1794	UTR 3			XP_016856448.1

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