Product Details

SNP ID
rs146649807
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:6465551 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCCTTCACCCTCCACAGTACAGA[C/G]CACTTCTGCAAATGAGAATAGCACT
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_139161.4 308 Missense Mutation ACC,AGC T30S NP_631900.1
NM_174881.3 308 Missense Mutation ACC,AGC T30S NP_777377.1
NM_174882.2 308 Missense Mutation ACC,AGC T30S NP_777378.1
XM_017027471.1 308 Missense Mutation ACC,AGC T93S 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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