Product Details

SNP ID

rs9448742

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:79545422 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TCCCAGTACTTTCAGATCACTGAAA[C/T]CTTGAATTATTAAAGAGGAATTAAC

Phenotype

MIM: 611408 MIM: 615678

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LCA5 PubMed Links

Gene Details

Gene

LCA5

Gene Name

LCA5, lebercilin

There are no transcripts associated with this gene.

Gene

SH3BGRL2

Gene Name

SH3 domain binding glutamate rich protein like 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_031469.3		Intron			NP_113657.1
XM_011536165.2		Intron			XP_011534467.1
XM_011536282.2		Intron			XP_011534584.1
XM_017011344.1		Intron			XP_016866833.1
XM_017011345.1		Intron			XP_016866834.1

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