Product Details

SNP ID

rs13312986

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:89933890 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AGAATTTCTATGACCCAATTATAGC[C/T]ATCAGGGATATACAAATTAAAACCA

Phenotype

MIM: 602667 MIM: 604598

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NBN PubMed Links

Gene Details

Gene

NBN

Gene Name

nibrin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001024688.2	4170	UTR 3			NP_001019859.1
NM_002485.4	4170	UTR 3			NP_002476.2
XM_011517045.1	4170	UTR 3			XP_011515347.1
XM_011517046.1	4170	Intron			XP_011515348.1
XM_017013460.1	4170	UTR 3			XP_016868949.1
XM_017013461.1	4170	UTR 3			XP_016868950.1
XM_017013462.1	4170	UTR 3			XP_016868951.1

Gene

OSGIN2

Gene Name

oxidative stress induced growth inhibitor family member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001126111.2	4170	Intron			NP_001119583.1
NM_004337.2	4170	Intron			NP_004328.1

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