Product Details

SNP ID

rs116352541

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:123381983 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAAAGGGGTTGAGTGGTGGCTGTG[A/G]GAATGGGGTGGGTGTCCCTGCAGGG

Phenotype

MIM: 609720 MIM: 613633

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CRB2 PubMed Links

Gene Details

Gene

CRB2

Gene Name

crumbs 2, cell polarity complex component

There are no transcripts associated with this gene.

Gene

DENND1A

Gene Name

DENN domain containing 1A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020946.1	3589	Missense Mutation	CCA,TCA	P827S	NP_065997.1
NM_024820.2	3589	Intron			NP_079096.2
XM_005252109.2	3589	Missense Mutation	CCA,TCA	P888S	XP_005252166.1
XM_005252111.4	3589	Missense Mutation	CCA,TCA	P842S	XP_005252168.1
XM_005252113.4	3589	Intron			XP_005252170.1
XM_006717195.3	3589	Missense Mutation	CCA,TCA	P885S	XP_006717258.1
XM_011518882.2	3589	Missense Mutation	CCA,TCA	P903S	XP_011517184.1
XM_011518883.2	3589	Missense Mutation	CCA,TCA	P884S	XP_011517185.1
XM_011518884.2	3589	Missense Mutation	CCA,TCA	P874S	XP_011517186.1
XM_011518885.2	3589	Missense Mutation	CCA,TCA	P867S	XP_011517187.1
XM_011518886.2	3589	Missense Mutation	CCA,TCA	P860S	XP_011517188.1
XM_011518887.2	3589	Intron			XP_011517189.1
XM_017014947.1	3589	Missense Mutation	CCA,TCA	P876S	XP_016870436.1
XM_017014948.1	3589	Missense Mutation	CCA,TCA	P870S	XP_016870437.1
XM_017014949.1	3589	Missense Mutation	CCA,TCA	P861S	XP_016870438.1
XM_017014950.1	3589	Missense Mutation	CCA,TCA	P843S	XP_016870439.1
XM_017014951.1	3589	Missense Mutation	CCA,TCA	P838S	XP_016870440.1
XM_017014952.1	3589	Missense Mutation	CCA,TCA	P629S	XP_016870441.1

View Full Product Details