Product Details

SNP ID

rs201707698

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:144393325 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGACGGCATCCACGGGGCTAGAAG[G/T]GGGCGGTGACGCGGTCCGTCTCCAG

Phenotype

MIM: 606027

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ADCK5 PubMed Links

Gene Details

Gene

ADCK5

Gene Name

aarF domain containing kinase 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_174922.4	4350	Intron			NP_777582.4
XM_006716527.2	4350	Intron			XP_006716590.1
XM_011516907.2	4350	Intron			XP_011515209.1
XM_011516909.1	4350	Intron			XP_011515211.1
XM_011516910.1	4350	Intron			XP_011515212.1
XM_017013174.1	4350	Intron			XP_016868663.1

Gene

CPSF1

Gene Name

cleavage and polyadenylation specific factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_013291.2	4350	Missense Mutation	CAC,CCC	H1442P	NP_037423.2
XM_006716548.2	4350	Missense Mutation	CAC,CCC	H1439P	XP_006716611.1
XM_006716549.2	4350	Missense Mutation	CAC,CCC	H1364P	XP_006716612.1
XM_006716550.3	4350	Missense Mutation	CAC,CCC	H784P	XP_006716613.1
XM_011516997.1	4350	Missense Mutation	CAC,CCC	H1364P	XP_011515299.1
XM_011516998.1	4350	Missense Mutation	CAC,CCC	H1364P	XP_011515300.1
XM_011516999.1	4350	Missense Mutation	CAC,CCC	H1364P	XP_011515301.1

Gene

MIR1234

Gene Name

microRNA 1234

There are no transcripts associated with this gene.

Gene

MIR6849

Gene Name

microRNA 6849

There are no transcripts associated with this gene.

Gene

MIR939

Gene Name

microRNA 939

There are no transcripts associated with this gene.

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