Product Details

SNP ID

rs200624508

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.20:63746982 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGGCCTCCTGGGGGGCTGCGCGGC[C/T]GCGGCGAGTCTTCCTCATCCTTGTC

Phenotype

MIM: 609809 MIM: 609493 MIM: 614639

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

LIME1 PubMed Links

Additional Information

For this assay, SNP(s) [rs12625387,rs5019252] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

LIME1

Gene Name

Lck interacting transmembrane adaptor 1

There are no transcripts associated with this gene.

Gene

SLC2A4RG

Gene Name

SLC2A4 regulator

There are no transcripts associated with this gene.

Gene

ZBTB46

Gene Name

zinc finger and BTB domain containing 46

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_025224.3	1999	Missense Mutation	CAG,CGG	Q573R	NP_079500.2
XM_005260195.4	1999	Missense Mutation	CAG,CGG	Q573R	XP_005260252.1
XM_005260196.3	1999	Missense Mutation	CAG,CGG	Q573R	XP_005260253.1
XM_005260197.4	1999	Missense Mutation	CAG,CGG	Q573R	XP_005260254.1
XM_005260198.4	1999	Missense Mutation	CAG,CGG	Q573R	XP_005260255.1
XM_006723700.3	1999	Missense Mutation	CAG,CGG	Q573R	XP_006723763.1
XM_011528548.2	1999	Missense Mutation	CAG,CGG	Q573R	XP_011526850.1
XM_011528549.2	1999	Intron			XP_011526851.1
XM_017027667.1	1999	Intron			XP_016883156.1

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