Product Details

SNP ID

rs141426834

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:153670784 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCAAAGTTCTTCCGGATCTGCTCA[A/C]TGACAGAGCCTAAGATGTCCCTGTC

Phenotype

MIM: 300680

Polymorphism

A/C, 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	902	Missense Mutation	AGT,ATT	S368I	NP_001034671.3
NM_001135740.1	902	Missense Mutation	AGT,ATT	S302I	NP_001129212.1
XM_005274651.2	902	Missense Mutation	AGT,ATT	S285I	XP_005274708.1
XM_006724809.3	902	Missense Mutation	AGT,ATT	S285I	XP_006724872.1
XM_011531107.2	902	Missense Mutation	AGT,ATT	S285I	XP_011529409.2
XM_011531108.2	902	Missense Mutation	AGT,ATT	S303I	XP_011529410.1
XM_011531110.2	902	Missense Mutation	AGT,ATT	S285I	XP_011529412.1
XM_011531111.2	902	Missense Mutation	AGT,ATT	S285I	XP_011529413.1
XM_011531112.2	902	Missense Mutation	AGT,ATT	S285I	XP_011529414.1
XM_017029277.1	902	Missense Mutation	AGT,ATT	S368I	XP_016884766.1
XM_017029278.1	902	Missense Mutation	AGT,ATT	S285I	XP_016884767.1
XM_017029279.1	902	Missense Mutation	AGT,ATT	S285I	XP_016884768.1
XM_017029280.1	902	Intron			XP_016884769.1

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