Product Details

SNP ID

rs113989012

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:6465547 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTCTGCCTTCACCCTCCACAGTA[C/G]AGACCACTTCTGCAAATGAGAATAG

Phenotype

MIM: 609737 MIM: 613634 MIM: 608746

Polymorphism

C/G, 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	304	Missense Mutation	CAG,GAG	Q29E	NP_631900.1
NM_174881.3	304	Missense Mutation	CAG,GAG	Q29E	NP_777377.1
NM_174882.2	304	Missense Mutation	CAG,GAG	Q29E	NP_777378.1
XM_017027471.1	304	Missense Mutation	CAG,GAG	Q92E	XP_016882960.1

Gene

DENND1C

Gene Name

DENN domain containing 1C

There are no transcripts associated with this gene.

Gene

SLC25A23

Gene Name

solute carrier family 25 member 23

There are no transcripts associated with this gene.

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