Product Details

SNP ID

rs201609790

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:36240346 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAATCGACAGATCTGTGCCTTTTCC[A/G]ATGTGCTACCTGTGCTCTCCATGAA

Phenotype

MIM: 602879

Polymorphism

A/G, Transition 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	703	Missense Mutation	AAT,GAT	N160D	NP_001258803.1
NM_015511.4	703	Missense Mutation	AAT,GAT	N160D	NP_056326.2
XM_006723770.3	703	Missense Mutation	AAT,GAT	N160D	XP_006723833.1
XM_011528762.2	703	Missense Mutation	AAT,GAT	N160D	XP_011527064.1
XM_011528763.2	703	Missense Mutation	AAT,GAT	N160D	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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