Product Details

SNP ID

rs143183155

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:182891404 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGATTGAATGAGATGTAACTCACT[C/G]AAGCTTTTGACTCGGTCTGCTGTTA

Phenotype

MIM: 607638

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

DCTD PubMed Links

Gene Details

Gene

DCTD

Gene Name

dCMP deaminase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001012732.1	799	Missense Mutation	CAG,GAG	Q189E	NP_001012750.1
NM_001921.2	799	Missense Mutation	CAG,GAG	Q178E	NP_001912.2
XM_005262778.3	799	Missense Mutation	CAG,GAG	Q189E	XP_005262835.1
XM_005262779.3	799	Missense Mutation	CAG,GAG	Q178E	XP_005262836.1
XM_005262780.3	799	Missense Mutation	CAG,GAG	Q178E	XP_005262837.1
XM_005262781.4	799	Missense Mutation	CAG,GAG	Q119E	XP_005262838.1
XM_005262782.3	799	Missense Mutation	CAG,GAG	Q119E	XP_005262839.1
XM_006714115.3	799	Missense Mutation	CAG,GAG	Q119E	XP_006714178.1
XM_006714116.3	799	Missense Mutation	CAG,GAG	Q119E	XP_006714179.1
XM_011531674.2	799	Missense Mutation	CAG,GAG	Q178E	XP_011529976.1
XM_011531675.2	799	Missense Mutation	CAG,GAG	Q119E	XP_011529977.1
XM_011531676.2	799	Missense Mutation	CAG,GAG	Q119E	XP_011529978.1
XM_017007816.1	799	Missense Mutation	CAG,GAG	Q178E	XP_016863305.1
XM_017007817.1	799	Missense Mutation	CAG,GAG	Q178E	XP_016863306.1
XM_017007818.1	799	Missense Mutation	CAG,GAG	Q178E	XP_016863307.1
XM_017007819.1	799	Missense Mutation	CAG,GAG	Q178E	XP_016863308.1
XM_017007820.1	799	Missense Mutation	CAG,GAG	Q178E	XP_016863309.1
XM_017007821.1	799	Missense Mutation	CAG,GAG	Q178E	XP_016863310.1
XM_017007822.1	799	Missense Mutation	CAG,GAG	Q178E	XP_016863311.1
XM_017007823.1	799	Missense Mutation	CAG,GAG	Q119E	XP_016863312.1
XM_017007824.1	799	Missense Mutation	CAG,GAG	Q119E	XP_016863313.1

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