Product Details

SNP ID

rs142791038

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:72757064 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTTTAGATTATGGAATAGAACTTA[C/G]GGGAAAATAGCAAAGTCTCTGATCA

Phenotype

MIM: 610510 MIM: 607533

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

BORA PubMed Links

Gene Details

Gene

BORA

Gene Name

bora, aurora kinase A activator

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286746.1	5904	Intron			NP_001273675.1
NM_001286747.1	5904	Intron			NP_001273676.1
NM_024808.3	5904	Intron			NP_079084.3
XM_006719868.3	5904	Intron			XP_006719931.2

Gene

DIS3

Gene Name

DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001128226.2	5904	UTR 3			NP_001121698.1
NM_001322348.1	5904	UTR 3			NP_001309277.1
NM_001322349.1	5904	UTR 3			NP_001309278.1
NM_014953.4	5904	UTR 3			NP_055768.3

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