Product Details

SNP ID

rs184972499

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:26361789 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCATGTGTTTCTCAGATGCCACCGC[C/T]ATAAGATCTAGTGCCCCCTGGTGCC

Phenotype

MIM: 616775

Polymorphism

C/T, 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	1694	Missense Mutation	ATA,ATG	I459M	NP_001108231.1
NM_001307925.1	1694	Missense Mutation	ATA,ATG	I479M	NP_001294854.1
NM_173574.3	1694	Missense Mutation	ATA,ATG	I459M	NP_775845.2
XM_005245828.3	1694	Missense Mutation	ATA,ATG	I487M	XP_005245885.1
XM_005245830.3	1694	Missense Mutation	ATA,ATG	I479M	XP_005245887.1
XM_005245832.3	1694	Missense Mutation	ATA,ATG	I479M	XP_005245889.1
XM_006710555.3	1694	Missense Mutation	ATA,ATG	I488M	XP_006710618.1
XM_011541198.2	1694	Missense Mutation	ATA,ATG	I479M	XP_011539500.1
XM_017000954.1	1694	Missense Mutation	ATA,ATG	I488M	XP_016856443.1
XM_017000955.1	1694	Missense Mutation	ATA,ATG	I488M	XP_016856444.1
XM_017000956.1	1694	Missense Mutation	ATA,ATG	I487M	XP_016856445.1
XM_017000957.1	1694	Missense Mutation	ATA,ATG	I468M	XP_016856446.1
XM_017000958.1	1694	UTR 3			XP_016856447.1
XM_017000959.1	1694	UTR 3			XP_016856448.1

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