Product Details

SNP ID
rs141745734
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:30006621 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCGTTAAATTCTGGGTTGAGAGTC[G/T]TCTTCTTCACACACGTCTTATGCTT
Phenotype
MIM: 604567
Polymorphism
G/T, Transversion 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 1127 Missense Mutation AAG,ACG K312T NP_001268991.1
NM_001282063.1 1127 Missense Mutation AAG,ACG K312T NP_001268992.1
NM_001282068.1 1127 Missense Mutation AAG,ACG K312T NP_001268997.1
NM_003586.2 1127 Missense Mutation AAG,ACG K312T NP_003577.2
XM_011545975.1 1127 Missense Mutation AAG,ACG K312T XP_011544277.1
XM_017023776.1 1127 Missense Mutation AAG,ACG K312T XP_016879265.1
XM_017023777.1 1127 Missense Mutation AAG,ACG K312T XP_016879266.1
XM_017023778.1 1127 Missense Mutation AAG,ACG K194T 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 1127 Intron NP_001291491.1
NM_001304563.1 1127 Intron NP_001291492.1
NM_173618.2 1127 Intron NP_775889.1
XM_011545809.2 1127 Intron XP_011544111.1
XM_011545811.2 1127 Intron XP_011544113.1
XM_011545812.2 1127 Intron XP_011544114.1
XM_017023169.1 1127 Intron XP_016878658.1

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