Product Details

SNP ID

rs200420190

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:42798480 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACGGACGGATACAAATAGCCAACA[A/C]CAGGGCCCCGATGCCTAGGCCGGTC

Phenotype

MIM: 614775 MIM: 601844

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CNTD1 PubMed Links

Gene Details

Gene

CNTD1

Gene Name

cyclin N-terminal domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_173478.2	246	Intron			NP_775749.2
XM_005257043.4	246	Intron			XP_005257100.1
XM_005257044.4	246	Intron			XP_005257101.1
XM_005257045.4	246	Intron			XP_005257102.1
XM_006721690.2	246	Intron			XP_006721753.1
XM_011524310.2	246	Intron			XP_011522612.1
XM_011524311.2	246	Intron			XP_011522613.1
XM_017024171.1	246	Intron			XP_016879660.1

Gene

COA3

Gene Name

cytochrome c oxidase assembly factor 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001040431.2	246	Missense Mutation	GTG,TTG	V68L	NP_001035521.1

Gene

WNK4

Gene Name

WNK lysine deficient protein kinase 4

There are no transcripts associated with this gene.

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