Product Details

SNP ID

rs147809541

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:53849663 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCTTGCTTTTTCCCAGGGCCATCT[C/G]CAGAGTGGATGCTACAACATGATCT

Phenotype

MIM: 605458

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CHDH PubMed Links

Gene Details

Gene

CHDH

Gene Name

choline dehydrogenase

There are no transcripts associated with this gene.

Gene

IL17RB

Gene Name

interleukin 17 receptor B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018725.3	130	Missense Mutation	CCA,GCA	P32A	NP_061195.2
XM_005265310.4	130	Missense Mutation	CCA,GCA	P32A	XP_005265367.1
XM_005265311.4	130	Missense Mutation	CCA,GCA	P32A	XP_005265368.1
XM_005265312.4	130	Missense Mutation	CCA,GCA	P32A	XP_005265369.1
XM_011533941.2	130	Missense Mutation	CCA,GCA	P32A	XP_011532243.1
XM_017006804.1	130	UTR 5			XP_016862293.1
XM_017006805.1	130	UTR 5			XP_016862294.1
XM_017006806.1	130	UTR 5			XP_016862295.1
XM_017006807.1	130	Missense Mutation	CCA,GCA	P32A	XP_016862296.1

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