Product Details

SNP ID

rs137998609

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.11:617593 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCGCCGTGGGGCTTCCGCCAGCTC[C/G]GGCCGCTGCGGGGGGCTCAGGGGCA

Phenotype

MIM: 606839 MIM: 605047 MIM: 611780 MIM: 182099

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

CDHR5 PubMed Links

Additional Information

For this assay, SNP(s) [rs34889521] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

CDHR5

Gene Name

cadherin related family member 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001171968.1	2028	Missense Mutation	CGA,GGA	R760G	NP_001165439.1
NM_021924.4	2028	Missense Mutation	CGA,GGA	R766G	NP_068743.2
NM_031264.3	2028	Missense Mutation	CGA,GGA	R572G	NP_112554.2
XM_006718253.3	2028	Missense Mutation	CGA,GGA	R686G	XP_006718316.1
XM_011520188.2	2028	Missense Mutation	CGA,GGA	R655G	XP_011518490.1
XM_011520189.2	2028	Missense Mutation	CGA,GGA	R624G	XP_011518491.1
XM_011520190.2	2028	Silent Mutation	CCC,CCG	P543P	XP_011518492.1
XM_011520191.2	2028	Intron			XP_011518493.1

Gene

IRF7

Gene Name

interferon regulatory factor 7

There are no transcripts associated with this gene.

Gene

PHRF1

Gene Name

PHD and ring finger domains 1

There are no transcripts associated with this gene.

Gene

SCT

Gene Name

secretin

There are no transcripts associated with this gene.

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