Product Details

SNP ID

rs200889328

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:42799212 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGGAGGCTTCGGGGCGGCTGGGC[C/T]GCTTCAGGGAGCCCCAGATCGTGGG

Phenotype

MIM: 614775 MIM: 601844

Polymorphism

C/T, Transition 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	376	Missense Mutation	CGC,TGC	R49C	NP_775749.2
XM_005257043.4	376	Intron			XP_005257100.1
XM_005257044.4	376	Intron			XP_005257101.1
XM_005257045.4	376	UTR 5			XP_005257102.1
XM_006721690.2	376	Missense Mutation	CGC,TGC	R49C	XP_006721753.1
XM_011524310.2	376	Intron			XP_011522612.1
XM_011524311.2	376	Intron			XP_011522613.1
XM_017024171.1	376	UTR 5			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	376	Intron			NP_001035521.1

Gene

WNK4

Gene Name

WNK lysine deficient protein kinase 4

There are no transcripts associated with this gene.

View Full Product Details