Product Details

SNP ID

rs149890005

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:39406239 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACTGAGATGCTTGCCTGTACTATG[A/T]CTGTACCTCATGTTGCCGGCATTGG

Phenotype

MIM: 602915

Polymorphism

A/T, Transversion 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	1641	Missense Mutation	AGA,AGT	R552S	NP_689718.1
XM_005260926.1	1641	Missense Mutation	AGA,AGT	R552S	XP_005260983.1
XM_006723967.1	1641	Missense Mutation	AGA,AGT	R552S	XP_006724030.1
XM_006723972.1	1641	Missense Mutation	AGA,AGT	R422S	XP_006724035.1
XM_006723973.1	1641	Missense Mutation	AGA,AGT	R422S	XP_006724036.1
XM_011529458.1	1641	Missense Mutation	AGA,AGT	R601S	XP_011527760.1
XM_011529459.1	1641	Missense Mutation	AGA,AGT	R601S	XP_011527761.1
XM_011529460.1	1641	Missense Mutation	AGA,AGT	R601S	XP_011527762.1
XM_011529461.1	1641	Missense Mutation	AGA,AGT	R601S	XP_011527763.1
XM_011529462.1	1641	Missense Mutation	AGA,AGT	R601S	XP_011527764.1
XM_011529463.2	1641	Missense Mutation	AGA,AGT	R601S	XP_011527765.1
XM_011529464.1	1641	Missense Mutation	AGA,AGT	R601S	XP_011527766.1
XM_011529465.1	1641	Missense Mutation	AGA,AGT	R601S	XP_011527767.1
XM_011529466.1	1641	Missense Mutation	AGA,AGT	R601S	XP_011527768.1
XM_011529467.1	1641	Missense Mutation	AGA,AGT	R601S	XP_011527769.1
XM_011529468.1	1641	Missense Mutation	AGA,AGT	R601S	XP_011527770.1
XM_011529469.2	1641	Missense Mutation	AGA,AGT	R601S	XP_011527771.1
XM_011529470.1	1641	Missense Mutation	AGA,AGT	R601S	XP_011527772.1
XM_011529471.1	1641	Missense Mutation	AGA,AGT	R555S	XP_011527773.1
XM_017028274.1	1641	Missense Mutation	AGA,AGT	R422S	XP_016883763.1
XM_017028275.1	1641	Missense Mutation	AGA,AGT	R422S	XP_016883764.1
XM_017028276.1	1641	Missense Mutation	AGA,AGT	R422S	XP_016883765.1
XM_017028277.1	1641	Missense Mutation	AGA,AGT	R422S	XP_016883766.1
XM_017028278.1	1641	Missense Mutation	AGA,AGT	R422S	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	1641	Intron			NP_001304673.1

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