Product Details

SNP ID

rs201563373

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:144393507 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGCTCGCTGCGCTCCATGGTGCTC[A/G]GGTACAGGTAGCGGTTGAGCAGCTC

Phenotype

MIM: 606027

Polymorphism

A/G, Transition 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	4254	Intron			NP_777582.4
XM_006716527.2	4254	Intron			XP_006716590.1
XM_011516907.2	4254	Intron			XP_011515209.1
XM_011516909.1	4254	Intron			XP_011515211.1
XM_011516910.1	4254	Intron			XP_011515212.1
XM_017013174.1	4254	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	4254	Missense Mutation	CCG,CTG	P1410L	NP_037423.2
XM_006716548.2	4254	Missense Mutation	CCG,CTG	P1407L	XP_006716611.1
XM_006716549.2	4254	Missense Mutation	CCG,CTG	P1332L	XP_006716612.1
XM_006716550.3	4254	Missense Mutation	CCG,CTG	P752L	XP_006716613.1
XM_011516997.1	4254	Missense Mutation	CCG,CTG	P1332L	XP_011515299.1
XM_011516998.1	4254	Missense Mutation	CCG,CTG	P1332L	XP_011515300.1
XM_011516999.1	4254	Missense Mutation	CCG,CTG	P1332L	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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