Product Details

SNP ID

rs201761855

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:36240330 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAAGCTACAGCCCGAGAATCGACA[C/G]ATCTGTGCCTTTTCCGATGTGCTAC

Phenotype

MIM: 602879

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

AAR2 PubMed Links

Gene Details

Gene

AAR2

Gene Name

AAR2 splicing factor homolog

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001271874.1	687	Missense Mutation	CAC,CAG	H154Q	NP_001258803.1
NM_015511.4	687	Missense Mutation	CAC,CAG	H154Q	NP_056326.2
XM_006723770.3	687	Missense Mutation	CAC,CAG	H154Q	XP_006723833.1
XM_011528762.2	687	Missense Mutation	CAC,CAG	H154Q	XP_011527064.1
XM_011528763.2	687	Missense Mutation	CAC,CAG	H154Q	XP_011527065.1

Gene

EPB41L1

Gene Name

erythrocyte membrane protein band 4.1 like 1

There are no transcripts associated with this gene.

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