Product Details

SNP ID

rs111452972

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:15283584 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCTTGATGACATGCTCGACCGAGA[C/T]ACTTCCGGACACACAGGCGGCAGAG

Phenotype

MIM: 300626

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ASB11 PubMed Links

Gene Details

Gene

ASB11

Gene Name

ankyrin repeat and SOCS box containing 11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001012428.2	861	Missense Mutation	TAT,TGT	Y277C	NP_001012428.1
NM_001201583.1	861	Missense Mutation	TAT,TGT	Y281C	NP_001188512.1
NM_080873.2	861	Missense Mutation	TAT,TGT	Y298C	NP_543149.1

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