Product Details

SNP ID

rs111589270

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:39406195 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCATACCCACTGTCAGAATGCTCT[A/G]GCTCCATTTCCTCTCTGTTACTGAG

Phenotype

MIM: 602915

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

LCA5L PubMed Links

Gene Details

Gene

LCA5L

Gene Name

LCA5L, lebercilin like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152505.3	1685	Missense Mutation	CCA,CTA	P567L	NP_689718.1
XM_005260926.1	1685	Missense Mutation	CCA,CTA	P567L	XP_005260983.1
XM_006723967.1	1685	Missense Mutation	CCA,CTA	P567L	XP_006724030.1
XM_006723972.1	1685	Missense Mutation	CCA,CTA	P437L	XP_006724035.1
XM_006723973.1	1685	Missense Mutation	CCA,CTA	P437L	XP_006724036.1
XM_011529458.1	1685	Missense Mutation	CCA,CTA	P616L	XP_011527760.1
XM_011529459.1	1685	Missense Mutation	CCA,CTA	P616L	XP_011527761.1
XM_011529460.1	1685	Missense Mutation	CCA,CTA	P616L	XP_011527762.1
XM_011529461.1	1685	Missense Mutation	CCA,CTA	P616L	XP_011527763.1
XM_011529462.1	1685	Missense Mutation	CCA,CTA	P616L	XP_011527764.1
XM_011529463.2	1685	Missense Mutation	CCA,CTA	P616L	XP_011527765.1
XM_011529464.1	1685	Missense Mutation	CCA,CTA	P616L	XP_011527766.1
XM_011529465.1	1685	Missense Mutation	CCA,CTA	P616L	XP_011527767.1
XM_011529466.1	1685	Missense Mutation	CCA,CTA	P616L	XP_011527768.1
XM_011529467.1	1685	Missense Mutation	CCA,CTA	P616L	XP_011527769.1
XM_011529468.1	1685	Missense Mutation	CCA,CTA	P616L	XP_011527770.1
XM_011529469.2	1685	Missense Mutation	CCA,CTA	P616L	XP_011527771.1
XM_011529470.1	1685	Missense Mutation	CCA,CTA	P616L	XP_011527772.1
XM_011529471.1	1685	Missense Mutation	CCA,CTA	P570L	XP_011527773.1
XM_017028274.1	1685	Missense Mutation	CCA,CTA	P437L	XP_016883763.1
XM_017028275.1	1685	Missense Mutation	CCA,CTA	P437L	XP_016883764.1
XM_017028276.1	1685	Missense Mutation	CCA,CTA	P437L	XP_016883765.1
XM_017028277.1	1685	Missense Mutation	CCA,CTA	P437L	XP_016883766.1
XM_017028278.1	1685	Missense Mutation	CCA,CTA	P437L	XP_016883767.1

Gene

WRB

Gene Name

tryptophan rich basic protein

There are no transcripts associated with this gene.

Gene

WRB-SH3BGR

Gene Name

WRB-SH3BGR readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317744.1	1685	Intron			NP_001304673.1

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