Product Details

SNP ID

rs312186

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:46839460 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TCCCCACCTTACATCCCTCTCCCGC[C/T]GTACCTCCACGAAGTTGTGAATGGC

Phenotype

MIM: 602242

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AP2S1 PubMed Links

Gene Details

Gene

AP2S1

Gene Name

adaptor related protein complex 2 sigma 1 subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001301076.1		Intron			NP_001288005.1
NM_001301078.1		Intron			NP_001288007.1
NM_001301081.1		Intron			NP_001288010.1
NM_004069.4		Intron			NP_004060.2
NM_021575.3		Intron			NP_067586.1
XM_011526423.2		Intron			XP_011524725.1
XM_011526424.2		Intron			XP_011524726.1

Gene

SNAR-E

Gene Name

small ILF3/NF90-associated RNA E

There are no transcripts associated with this gene.

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