Product Details

SNP ID

rs11555712

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:39433693 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAATCTGGGCCACGTGACCACCACC[A/C]TTTACACGGACACGGATGTCTACAC

Phenotype

MIM: 611893 MIM: 603675

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

LOC723805 PubMed Links

Gene Details

Gene

LOC723805

Gene Name

interleukin-like

There are no transcripts associated with this gene.

Gene

PLEKHG2

Gene Name

pleckstrin homology and RhoGEF domain containing G2

There are no transcripts associated with this gene.

Gene

RPS16

Gene Name

ribosomal protein S16

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001020.5	293	Missense Mutation	AAG,AAT	K73N	NP_001011.1
NM_001321111.1	293	Missense Mutation	AAG,AAT	K56N	NP_001308040.1
XM_005259137.2	293	Intron			XP_005259194.1

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