Product Details

SNP ID

rs11555717

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:39435686 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATGAGACCATTGCCGCGTTTGCAG[T/C]GCGCCACAGCTGTCGCTGTCTTCTG

Phenotype

MIM: 611893 MIM: 603675 MIM: 602102

Polymorphism

T/C, Transition 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	196	Missense Mutation	CAC,CGC	H24R	NP_001011.1
NM_001321111.1	196	Missense Mutation	CAC,CGC	H24R	NP_001308040.1
XM_005259137.2	196	Intron			XP_005259194.1

Gene

SUPT5H

Gene Name

SPT5 homolog, DSIF elongation factor subunit

There are no transcripts associated with this gene.

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