Product Details

SNP ID: rs138618033
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.14:24299974 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCACACATGGGGCAGGGTCCGCGCT[C/T]TCCACACAAGGTGGGGCGCCGGTTC
Phenotype: MIM: 604441 MIM: 610410
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: CIDEB PubMed Links

Gene Details

Gene: CIDEB
Gene Name: cell death-inducing DFFA-like effector b

There are no transcripts associated with this gene.

Gene: DHRS1
Gene Name: dehydrogenase/reductase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001136050.2	121	Intron			NP_001129522.1
NM_138452.2	121	Intron			NP_612461.1

Gene: NOP9
Gene Name: NOP9 nucleolar protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286367.1	121	Missense Mutation	TCT,TTT	S7F	NP_001273296.1
NM_174913.2	121	Missense Mutation	TCT,TTT	S7F	NP_777573.1
XM_005267385.1	121	Missense Mutation	TCT,TTT	S7F	XP_005267442.1
XM_011536526.1	121	UTR 5			XP_011534828.1
XM_011536527.2	121	Missense Mutation	TCT,TTT	S7F	XP_011534829.1

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