Product Details

SNP ID

rs150754131

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:39406110 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAAGAGTTCTTCCATGAGACTGCT[C/T]TTCTTATCTCTGAAAGTTGTATCCT

Phenotype

MIM: 602915

Polymorphism

C/T, 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	1770	Silent Mutation	AAA,AAG	K595K	NP_689718.1
XM_005260926.1	1770	Silent Mutation	AAA,AAG	K595K	XP_005260983.1
XM_006723967.1	1770	Silent Mutation	AAA,AAG	K595K	XP_006724030.1
XM_006723972.1	1770	Silent Mutation	AAA,AAG	K465K	XP_006724035.1
XM_006723973.1	1770	Silent Mutation	AAA,AAG	K465K	XP_006724036.1
XM_011529458.1	1770	Silent Mutation	AAA,AAG	K644K	XP_011527760.1
XM_011529459.1	1770	Silent Mutation	AAA,AAG	K644K	XP_011527761.1
XM_011529460.1	1770	Silent Mutation	AAA,AAG	K644K	XP_011527762.1
XM_011529461.1	1770	Silent Mutation	AAA,AAG	K644K	XP_011527763.1
XM_011529462.1	1770	Silent Mutation	AAA,AAG	K644K	XP_011527764.1
XM_011529463.2	1770	Silent Mutation	AAA,AAG	K644K	XP_011527765.1
XM_011529464.1	1770	Silent Mutation	AAA,AAG	K644K	XP_011527766.1
XM_011529465.1	1770	Silent Mutation	AAA,AAG	K644K	XP_011527767.1
XM_011529466.1	1770	Silent Mutation	AAA,AAG	K644K	XP_011527768.1
XM_011529467.1	1770	Silent Mutation	AAA,AAG	K644K	XP_011527769.1
XM_011529468.1	1770	Silent Mutation	AAA,AAG	K644K	XP_011527770.1
XM_011529469.2	1770	Silent Mutation	AAA,AAG	K644K	XP_011527771.1
XM_011529470.1	1770	Silent Mutation	AAA,AAG	K644K	XP_011527772.1
XM_011529471.1	1770	Silent Mutation	AAA,AAG	K598K	XP_011527773.1
XM_017028274.1	1770	Silent Mutation	AAA,AAG	K465K	XP_016883763.1
XM_017028275.1	1770	Silent Mutation	AAA,AAG	K465K	XP_016883764.1
XM_017028276.1	1770	Silent Mutation	AAA,AAG	K465K	XP_016883765.1
XM_017028277.1	1770	Silent Mutation	AAA,AAG	K465K	XP_016883766.1
XM_017028278.1	1770	Silent Mutation	AAA,AAG	K465K	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	1770	Intron			NP_001304673.1

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