Product Details

SNP ID
rs138346863
Assay Type
Functionally Tested
NCBI dbSNP Submissions
7
Location
Chr.1:92833026 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCGCAAAAGTTTGGCACAATTACCG[A/G]TGCTGGTCCTTGAAGAAACAAATAT
Phenotype
MIM: 614542 MIM: 603634 MIM: 603635
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
FAM69A PubMed Links

Gene Details

Gene
FAM69A
Gene Name
family with sequence similarity 69 member A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001006605.4 576 Intron NP_001006606.2
NM_001252269.1 576 Intron NP_001239198.1
NM_001252270.1 576 Intron NP_001239199.1
NM_001252271.1 576 Intron NP_001239200.1
NM_001252273.1 576 Silent Mutation CAC,CAT H161H NP_001239202.1
Gene
RPL5
Gene Name
ribosomal protein L5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000969.3 576 Intron NP_000960.2
Gene
SNORA66
Gene Name
small nucleolar RNA, H/ACA box 66
There are no transcripts associated with this gene.

Gene
SNORD21
Gene Name
small nucleolar RNA, C/D box 21
There are no transcripts associated with this gene.

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