Product Details

SNP ID

rs147323022

Assay Type

Functionally tested

NCBI dbSNP Submissions

14

Location

Chr.1:26361890 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCACAGGGCTGTGGGGCATGCAGCC[A/G]ATGGTGCAGCTTCAGGTGGATGTGC

Phenotype

MIM: 616775

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AIM1L PubMed Links

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	1593	Missense Mutation	CGG,TGG	R426W	NP_001108231.1
NM_001307925.1	1593	Missense Mutation	CGG,TGG	R446W	NP_001294854.1
NM_173574.3	1593	Missense Mutation	CGG,TGG	R426W	NP_775845.2
XM_005245828.3	1593	Missense Mutation	CGG,TGG	R454W	XP_005245885.1
XM_005245830.3	1593	Missense Mutation	CGG,TGG	R446W	XP_005245887.1
XM_005245832.3	1593	Missense Mutation	CGG,TGG	R446W	XP_005245889.1
XM_006710555.3	1593	Missense Mutation	CGG,TGG	R455W	XP_006710618.1
XM_011541198.2	1593	Missense Mutation	CGG,TGG	R446W	XP_011539500.1
XM_017000954.1	1593	Missense Mutation	CGG,TGG	R455W	XP_016856443.1
XM_017000955.1	1593	Missense Mutation	CGG,TGG	R455W	XP_016856444.1
XM_017000956.1	1593	Missense Mutation	CGG,TGG	R454W	XP_016856445.1
XM_017000957.1	1593	Missense Mutation	CGG,TGG	R435W	XP_016856446.1
XM_017000958.1	1593	UTR 3			XP_016856447.1
XM_017000959.1	1593	UTR 3			XP_016856448.1

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