Product Details

SNP ID

rs73920676

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:6467578 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCTGGGACTTTTGACAGTTGCTGG[G/T]GGGTGTAGCAGGGGAATTCAGGGCT

Phenotype

MIM: 609737 MIM: 613634 MIM: 608746

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CRB3 PubMed Links

Gene Details

Gene

CRB3

Gene Name

crumbs 3, cell polarity complex component

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_139161.4	2374	Intron			NP_631900.1
NM_174881.3	2374	Intron			NP_777377.1
NM_174882.2	2374	Intron			NP_777378.1
XM_017027471.1	2374	Intron			XP_016882960.1

Gene

DENND1C

Gene Name

DENN domain containing 1C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001290331.1	2374	Missense Mutation			NP_001277260.1
NM_024898.3	2374	Missense Mutation			NP_079174.2
XM_006722905.2	2374	Missense Mutation			XP_006722968.2
XM_006722906.3	2374	Missense Mutation			XP_006722969.1
XM_011528318.2	2374	Missense Mutation			XP_011526620.1

Gene

SLC25A23

Gene Name

solute carrier family 25 member 23

There are no transcripts associated with this gene.

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