Product Details

SNP ID

rs182417813

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:79486865 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGTGTATGTATGATCTACTTCTTT[A/T]TAACTGCATTGTATTTAGCTATTAA

Phenotype

MIM: 611408

Polymorphism

A/T, Transversion 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	2704	UTR 3			NP_001116241.1
NM_181714.3	2704	UTR 3			NP_859065.2
XM_005248665.4	2704	UTR 3			XP_005248722.1
XM_011535504.1	2704	UTR 3			XP_011533806.1

View Full Product Details