Product Details

SNP ID

rs188188728

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:616632 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCATTAGGGAAAGTGCTGACAAG[C/T]CGCAAGGGATCCCTTGATGGTTCTG

Phenotype

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

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CDHR5 PubMed Links

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	2989	UTR 3			NP_001165439.1
NM_021924.4	2989	UTR 3			NP_068743.2
NM_031264.3	2989	UTR 3			NP_112554.2
XM_006718253.3	2989	UTR 3			XP_006718316.1
XM_011520188.2	2989	UTR 3			XP_011518490.1
XM_011520189.2	2989	UTR 3			XP_011518491.1
XM_011520190.2	2989	UTR 3			XP_011518492.1
XM_011520191.2	2989	Intron			XP_011518493.1

Gene

IRF7

Gene Name

interferon regulatory factor 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001572.3	2989	Intron			NP_001563.2
NM_004029.2	2989	Intron			NP_004020.1
NM_004031.2	2989	Intron			NP_004022.2
XM_005252906.3	2989	Intron			XP_005252963.1
XM_005252907.3	2989	Intron			XP_005252964.1
XM_005252909.3	2989	Intron			XP_005252966.1
XM_011520066.2	2989	Intron			XP_011518368.1
XM_017017674.1	2989	Intron			XP_016873163.1

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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