Product Details

SNP ID

rs143070036

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:613097 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGCGTGGGGAGCCACGGCGCTGCC[A/G]TGCCCGGAATTCCACCAGCTCTGAA

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	1707	Missense Mutation	CGG,TGG	R420W	NP_001563.2
NM_004029.2	1707	Missense Mutation	CGG,TGG	R391W	NP_004020.1
NM_004031.2	1707	Missense Mutation	CGG,TGG	R433W	NP_004022.2
XM_005252906.3	1707	Missense Mutation	CGG,TGG	R433W	XP_005252963.1
XM_005252907.3	1707	Missense Mutation	CGG,TGG	R432W	XP_005252964.1
XM_005252909.3	1707	Missense Mutation	CGG,TGG	R404W	XP_005252966.1
XM_011520066.2	1707	Missense Mutation	CGG,TGG	R419W	XP_011518368.1
XM_017017674.1	1707	Missense Mutation	CGG,TGG	R127W	XP_016873163.1

Gene

PHRF1

Gene Name

PHD and ring finger domains 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286581.1	1707	Intron			NP_001273510.1
NM_001286582.1	1707	Intron			NP_001273511.1
NM_001286583.1	1707	Intron			NP_001273512.1
NM_020901.3	1707	Intron			NP_065952.2
XM_005253025.4	1707	Intron			XP_005253082.1
XM_005253027.3	1707	Intron			XP_005253084.1
XM_011520236.2	1707	Intron			XP_011518538.1
XM_011520237.2	1707	Intron			XP_011518539.1

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