Product Details

SNP ID

rs200019228

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:26322051 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCACGTGGTCCCGGTCGTAGCCCC[A/G]GCCTCCTGGGGGTGGGATGGGGATT

Phenotype

MIM: 114280 MIM: 609151

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AIM1L PubMed Links

Gene Details

Gene

AIM1L

Gene Name

absent in melanoma 1-like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001039775.3	5039	Missense Mutation	CGG,TGG	R1635W	NP_001034864.2
XM_005245918.2	5039	Missense Mutation	CGG,TGG	R1635W	XP_005245975.1
XM_011541672.1	5039	Missense Mutation	CGG,TGG	R1623W	XP_011539974.1
XM_011541673.2	5039	Missense Mutation	CGG,TGG	R1692W	XP_011539975.1

Gene

CD52

Gene Name

CD52 molecule

There are no transcripts associated with this gene.

Gene

UBXN11

Gene Name

UBX domain protein 11

There are no transcripts associated with this gene.

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