Product Details

SNP ID

rs2292109

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:79486781 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAATCTATTTCATTTTTCAAGACA[C/T]ATTTTTATTTTTGGTTTCATTCAAA

Phenotype

MIM: 611408

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LCA5 PubMed Links

Gene Details

Gene

LCA5

Gene Name

LCA5, lebercilin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001122769.2	2788	UTR 3			NP_001116241.1
NM_181714.3	2788	UTR 3			NP_859065.2
XM_005248665.4	2788	UTR 3			XP_005248722.1
XM_011535504.1	2788	UTR 3			XP_011533806.1

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