Product Details

SNP ID

rs190564988

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.21:39451977 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGGGACTGCCGGAGCCCAGTGGAC[C/T]CCTGGGCTGCTGCCAGCCCCGACCT

Phenotype

MIM: 602230

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

LCA5L PubMed Links

Additional Information

For this assay, SNP(s) [rs11575939] are located under a probe 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

LCA5L

Gene Name

LCA5L, lebercilin like

There are no transcripts associated with this gene.

Gene

MIR6508

Gene Name

microRNA 6508

There are no transcripts associated with this gene.

Gene

SH3BGR

Gene Name

SH3 domain binding glutamate rich protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001001713.1	124	Intron			NP_001001713.1
NM_001317740.1	124	Missense Mutation	CCC,TCC	P24S	NP_001304669.1
NM_001317741.1	124	Intron			NP_001304670.1
NM_001317742.1	124	Intron			NP_001304671.1
NM_007341.2	124	Missense Mutation	CCC,TCC	P24S	NP_031367.1

Gene

WRB-SH3BGR

Gene Name

WRB-SH3BGR readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317744.1	124	Intron			NP_001304673.1

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