Product Details

SNP ID: rs199939644
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.3:49807824 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCTGTGGCGAAAGGCACTACGAGGC[C/T]GTGGCCCACTCACCACCTTATACAG
Phenotype: MIM: 191325
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: CDHR4 PubMed Links

Gene Details

Gene: CDHR4
Gene Name: cadherin related family member 4

There are no transcripts associated with this gene.

Gene: FAM212A
Gene Name: family with sequence similarity 212 member A

There are no transcripts associated with this gene.

Gene: MIR5193
Gene Name: microRNA 5193

There are no transcripts associated with this gene.

Gene: UBA7
Gene Name: ubiquitin like modifier activating enzyme 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003335.2	2626	Missense Mutation	CAG,CGG	Q876R	NP_003326.2
XM_005265430.2	2626	Missense Mutation	CAG,CGG	Q851R	XP_005265487.1
XM_006713321.2	2626	Missense Mutation	CAG,CGG	Q869R	XP_006713384.1
XM_011534070.1	2626	Missense Mutation	CAG,CGG	Q824R	XP_011532372.1
XM_011534071.1	2626	Missense Mutation	CAG,CGG	Q774R	XP_011532373.1
XM_011534072.1	2626	Missense Mutation	CAG,CGG	Q660R	XP_011532374.1

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