Product Details

SNP ID

rs139600283

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:30001490 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCCCGAGCCCAGTCCCCTGAGGC[A/C]CAAGCGGGAGAAACGGCCCCGCCTG

Phenotype

MIM: 604567 MIM: 603365 MIM: 613199

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

DOC2A PubMed Links

Gene Details

Gene

DOC2A

Gene Name

double C2 domain alpha

There are no transcripts associated with this gene.

Gene

HIRIP3

Gene Name

HIRA interacting protein 3

There are no transcripts associated with this gene.

Gene

INO80E

Gene Name

INO80 complex subunit E

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001304562.1	559	Intron			NP_001291491.1
NM_001304563.1	559	Missense Mutation	CAC,CCC	H158P	NP_001291492.1
NM_173618.2	559	Missense Mutation	CAC,CCC	H158P	NP_775889.1
XM_011545809.2	559	Missense Mutation	CAC,CCC	H158P	XP_011544111.1
XM_011545811.2	559	Missense Mutation	CAC,CCC	H158P	XP_011544113.1
XM_011545812.2	559	Missense Mutation	CAC,CCC	H158P	XP_011544114.1
XM_017023169.1	559	Missense Mutation	CAC,CCC	H158P	XP_016878658.1

Gene

TAOK2

Gene Name

TAO kinase 2

There are no transcripts associated with this gene.

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