Product Details

SNP ID

rs150912530

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:613820 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTGCAGGCGCTTGGGGAGGGTGAC[A/G]GGTACGGCTCTGCCTGGTGCGGGGA

Phenotype

MIM: 606839 MIM: 605047 MIM: 611780

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CDHR5 PubMed Links

Gene Details

Gene

CDHR5

Gene Name

cadherin related family member 5

There are no transcripts associated with this gene.

Gene

IRF7

Gene Name

interferon regulatory factor 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001572.3	1261	Missense Mutation	CCG,CTG	P271L	NP_001563.2
NM_004029.2	1261	Missense Mutation	CCG,CTG	P242L	NP_004020.1
NM_004031.2	1261	Missense Mutation	CCG,CTG	P284L	NP_004022.2
XM_005252906.3	1261	Missense Mutation	CCG,CTG	P284L	XP_005252963.1
XM_005252907.3	1261	Missense Mutation	CCG,CTG	P283L	XP_005252964.1
XM_005252909.3	1261	Missense Mutation	CCG,CTG	P255L	XP_005252966.1
XM_011520066.2	1261	Missense Mutation	CCG,CTG	P270L	XP_011518368.1
XM_017017674.1	1261	UTR 5			XP_016873163.1

Gene

PHRF1

Gene Name

PHD and ring finger domains 1

There are no transcripts associated with this gene.

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