Product Details

SNP ID

rs201718230

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:39405919 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTCTTTTTCCTTCTGTAGGTGAC[A/G]ATGGCTTAATAGAATTTACCACAGT

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	1961	Missense Mutation	TCG,TTG	S659L	NP_689718.1
XM_005260926.1	1961	Missense Mutation	TCG,TTG	S659L	XP_005260983.1
XM_006723967.1	1961	Missense Mutation	TCG,TTG	S659L	XP_006724030.1
XM_006723972.1	1961	Missense Mutation	TCG,TTG	S529L	XP_006724035.1
XM_006723973.1	1961	Missense Mutation	TCG,TTG	S529L	XP_006724036.1
XM_011529458.1	1961	Missense Mutation	TCG,TTG	S708L	XP_011527760.1
XM_011529459.1	1961	Missense Mutation	TCG,TTG	S708L	XP_011527761.1
XM_011529460.1	1961	Missense Mutation	TCG,TTG	S708L	XP_011527762.1
XM_011529461.1	1961	Missense Mutation	TCG,TTG	S708L	XP_011527763.1
XM_011529462.1	1961	Missense Mutation	TCG,TTG	S708L	XP_011527764.1
XM_011529463.2	1961	Missense Mutation	TCG,TTG	S708L	XP_011527765.1
XM_011529464.1	1961	Missense Mutation	TCG,TTG	S708L	XP_011527766.1
XM_011529465.1	1961	Missense Mutation	TCG,TTG	S708L	XP_011527767.1
XM_011529466.1	1961	Missense Mutation	TCG,TTG	S708L	XP_011527768.1
XM_011529467.1	1961	Missense Mutation	TCG,TTG	S708L	XP_011527769.1
XM_011529468.1	1961	Missense Mutation	TCG,TTG	S708L	XP_011527770.1
XM_011529469.2	1961	Missense Mutation	TCG,TTG	S708L	XP_011527771.1
XM_011529470.1	1961	Missense Mutation	TCG,TTG	S708L	XP_011527772.1
XM_011529471.1	1961	Missense Mutation	TCG,TTG	S662L	XP_011527773.1
XM_017028274.1	1961	Missense Mutation	TCG,TTG	S529L	XP_016883763.1
XM_017028275.1	1961	Missense Mutation	TCG,TTG	S529L	XP_016883764.1
XM_017028276.1	1961	Missense Mutation	TCG,TTG	S529L	XP_016883765.1
XM_017028277.1	1961	Missense Mutation	TCG,TTG	S529L	XP_016883766.1
XM_017028278.1	1961	Missense Mutation	TCG,TTG	S529L	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	1961	Intron			NP_001304673.1

View Full Product Details