Product Details

SNP ID
rs138356260
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:48440728 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTTTTCCTGCCTCCTGAACTGCGA[C/G]GTCTCGTTTTCCGACGTCCGCTGCA
Phenotype
MIM: 606605 MIM: 615808
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ATRIP PubMed Links

Gene Details

Gene
ATRIP
Gene Name
ATR interacting protein
There are no transcripts associated with this gene.

Gene
CCDC51
Gene Name
coiled-coil domain containing 51
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001256964.1 529 Intron NP_001243893.1
NM_001256965.2 529 Intron NP_001243894.1
NM_001256966.2 529 Intron NP_001243895.1
NM_001256967.2 529 Intron NP_001243896.1
NM_001256968.2 529 Intron NP_001243897.1
NM_001256969.2 529 Intron NP_001243898.1
NM_024661.4 529 Intron NP_078937.3
XM_011534113.2 529 Missense Mutation CCT,CGT P41R XP_011532415.1
Gene
TMA7
Gene Name
translation machinery associated 7 homolog
There are no transcripts associated with this gene.

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