Product Details

SNP ID

rs56060609

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:153670938 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCACCAAAGGTGCCGCAAGGCCTG[A/T]TGGCAGGTGAACCTCTTCTGGGGGT

Phenotype

MIM: 300680

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

PNCK PubMed Links

Gene Details

Gene

PNCK

Gene Name

pregnancy up-regulated nonubiquitous CaM kinase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001039582.3	834	Silent Mutation	CAA,CAT	Q345H	NP_001034671.3
NM_001135740.1	834	Silent Mutation	CAA,CAT	Q279H	NP_001129212.1
XM_005274651.2	834	Missense Mutation	CAA,CAT	Q262H	XP_005274708.1
XM_006724809.3	834	Missense Mutation	CAA,CAT	Q262H	XP_006724872.1
XM_011531107.2	834	Silent Mutation	CAA,CAT	Q262H	XP_011529409.2
XM_011531108.2	834	Missense Mutation	CAA,CAT	Q280H	XP_011529410.1
XM_011531110.2	834	Missense Mutation	CAA,CAT	Q262H	XP_011529412.1
XM_011531111.2	834	Missense Mutation	CAA,CAT	Q262H	XP_011529413.1
XM_011531112.2	834	Missense Mutation	CAA,CAT	Q262H	XP_011529414.1
XM_017029277.1	834	Missense Mutation	CAA,CAT	Q345H	XP_016884766.1
XM_017029278.1	834	Missense Mutation	CAA,CAT	Q262H	XP_016884767.1
XM_017029279.1	834	Missense Mutation	CAA,CAT	Q262H	XP_016884768.1
XM_017029280.1	834	Intron			XP_016884769.1

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