Product Details

SNP ID

rs2989946

Assay Type

Functionally tested

NCBI dbSNP Submissions

77

Location

Chr.1:226991247 on Build GRCh38

Set Membership

HapMap JSNP

Context Sequence [VIC/FAM]

AATGTATTTTTTCTATTGAGAAACA[A/G]GTTTCTGCTGCCATATACGTTTTTA

Phenotype

MIM: 603412 MIM: 606980

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CDC42BPA PubMed Links

Gene Details

Gene

CDC42BPA

Gene Name

CDC42 binding protein kinase alpha

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003607.3	9428	UTR 3			NP_003598.2
NM_014826.4	9428	UTR 3			NP_055641.3
XM_005273317.3	9428	Intron			XP_005273374.1
XM_005273318.3	9428	Intron			XP_005273375.1
XM_005273320.3	9428	Intron			XP_005273377.1
XM_005273321.3	9428	UTR 3			XP_005273378.1
XM_005273322.3	9428	UTR 3			XP_005273379.1
XM_005273324.3	9428	UTR 3			XP_005273381.1
XM_006711834.3	9428	Intron			XP_006711897.1
XM_006711835.3	9428	Intron			XP_006711898.1
XM_011544306.2	9428	Intron			XP_011542608.1
XM_011544307.2	9428	Intron			XP_011542609.1
XM_011544308.2	9428	UTR 3			XP_011542610.1
XM_011544309.2	9428	Intron			XP_011542611.1
XM_017002578.1	9428	UTR 3			XP_016858067.1
XM_017002579.1	9428	Intron			XP_016858068.1
XM_017002580.1	9428	Intron			XP_016858069.1
XM_017002581.1	9428	Intron			XP_016858070.1
XM_017002582.1	9428	Intron			XP_016858071.1

Gene

COQ8A

Gene Name

coenzyme Q8A

There are no transcripts associated with this gene.

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