Product Details

SNP ID

rs201177833

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:30006190 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCGGGACACTGCTGTCCACTCAG[A/G]CTGAGGACAGAGCCCCGGCCGCAGG

Phenotype

MIM: 604567

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DOC2A PubMed Links

Gene Details

Gene

DOC2A

Gene Name

double C2 domain alpha

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282062.1	1391	Missense Mutation	GCC,GTC	A400V	NP_001268991.1
NM_001282063.1	1391	Missense Mutation	GCC,GTC	A400V	NP_001268992.1
NM_001282068.1	1391	Missense Mutation	GCC,GTC	A400V	NP_001268997.1
NM_003586.2	1391	Missense Mutation	GCC,GTC	A400V	NP_003577.2
XM_011545975.1	1391	Missense Mutation	GCC,GTC	A400V	XP_011544277.1
XM_017023776.1	1391	Missense Mutation	GCC,GTC	A400V	XP_016879265.1
XM_017023777.1	1391	Missense Mutation	GCC,GTC	A400V	XP_016879266.1
XM_017023778.1	1391	Missense Mutation	GCC,GTC	A282V	XP_016879267.1

Gene

INO80E

Gene Name

INO80 complex subunit E

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001304562.1	1391	Intron			NP_001291491.1
NM_001304563.1	1391	Intron			NP_001291492.1
NM_173618.2	1391	Intron			NP_775889.1
XM_011545809.2	1391	Intron			XP_011544111.1
XM_011545811.2	1391	Intron			XP_011544113.1
XM_011545812.2	1391	Intron			XP_011544114.1
XM_017023169.1	1391	Intron			XP_016878658.1

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