Product Details

SNP ID
rs142382097
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:37360520 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGCCCCCTGATGATTTCTCGAAA[A/C]CACTGTGTTTTGAAGCAGAATCCTG
Phenotype
MIM: 611685
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
RNF8 PubMed Links

Gene Details

Gene
RNF8
Gene Name
ring finger protein 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003958.3 379 Missense Mutation AAA,AAC K62N NP_003949.1
NM_183078.2 379 Missense Mutation AAA,AAC K62N NP_898901.1
XM_006715241.2 379 Missense Mutation AAA,AAC K62N XP_006715304.1
XM_006715242.2 379 Missense Mutation AAA,AAC K62N XP_006715305.1
XM_017011462.1 379 Missense Mutation AAA,AAC K5N XP_016866951.1
XM_017011463.1 379 Missense Mutation AAA,AAC K5N XP_016866952.1
XM_017011464.1 379 UTR 5 XP_016866953.1

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