Product Details

SNP ID

rs140357848

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:26362010 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGAGGTTACTGGAGCTGCTGAAGC[A/G]CTTGTGGCACACCTGACGGGAACGA

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	1473	Missense Mutation	CGC,TGC	R386C	NP_001108231.1
NM_001307925.1	1473	Missense Mutation	CGC,TGC	R406C	NP_001294854.1
NM_173574.3	1473	Missense Mutation	CGC,TGC	R386C	NP_775845.2
XM_005245828.3	1473	Missense Mutation	CGC,TGC	R414C	XP_005245885.1
XM_005245830.3	1473	Missense Mutation	CGC,TGC	R406C	XP_005245887.1
XM_005245832.3	1473	Missense Mutation	CGC,TGC	R406C	XP_005245889.1
XM_006710555.3	1473	Missense Mutation	CGC,TGC	R415C	XP_006710618.1
XM_011541198.2	1473	Missense Mutation	CGC,TGC	R406C	XP_011539500.1
XM_017000954.1	1473	Missense Mutation	CGC,TGC	R415C	XP_016856443.1
XM_017000955.1	1473	Missense Mutation	CGC,TGC	R415C	XP_016856444.1
XM_017000956.1	1473	Missense Mutation	CGC,TGC	R414C	XP_016856445.1
XM_017000957.1	1473	Missense Mutation	CGC,TGC	R395C	XP_016856446.1
XM_017000958.1	1473	Missense Mutation	GCG,GTG	A408V	XP_016856447.1
XM_017000959.1	1473	Missense Mutation	GCG,GTG	A388V	XP_016856448.1

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