Product Details

SNP ID
rs1800539
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:29603795 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTGCCCTCCCTGCAGCCGTCAGGG[A/C]CCGTCCCCCAACTCCCCTTTCCGCT
Phenotype
MIM: 607379
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
NF2 PubMed Links

Gene Details

Gene
NF2
Gene Name
neurofibromin 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000268.3 240 UTR 5 NP_000259.1
NM_016418.5 240 UTR 5 NP_057502.2
NM_181825.2 240 UTR 5 NP_861546.1
NM_181828.2 240 UTR 5 NP_861966.1
NM_181829.2 240 UTR 5 NP_861967.1
NM_181830.2 240 UTR 5 NP_861968.1
NM_181831.2 240 UTR 5 NP_861969.1
NM_181832.2 240 UTR 5 NP_861970.1
NM_181833.2 240 UTR 5 NP_861971.1
XM_017028809.1 240 Intron XP_016884298.1
XM_017028810.1 240 Intron XP_016884299.1

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