Product Details

SNP ID

rs147909444

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:30834499 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCTCCAATTGAAATTAGTAGCGAC[A/G]ATAGCAAAGAAGACTATAGTTTAAA

Phenotype

MIM: 609534 MIM: 614853

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ATAD5 PubMed Links

Gene Details

Gene

ATAD5

Gene Name

ATPase family, AAA domain containing 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024857.4	817	Missense Mutation	AAT,GAT	N140D	NP_079133.3
XM_011525269.2	817	Missense Mutation	AAT,GAT	N140D	XP_011523571.1
XM_011525270.2	817	Missense Mutation	AAT,GAT	N140D	XP_011523572.1
XM_011525273.2	817	Missense Mutation	AAT,GAT	N140D	XP_011523575.1
XM_011525274.2	817	Intron			XP_011523576.1
XM_017025111.1	817	Missense Mutation	AAT,GAT	N126D	XP_016880600.1

Gene

CRLF3

Gene Name

cytokine receptor like factor 3

There are no transcripts associated with this gene.

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