Product Details

SNP ID: rs72728236
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.14:65005202 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TAAGTCCTGTGAGGTCAGGTATTTT[A/G]AAAAGGGAATTATAGGAAAAAATTT
Phenotype: MIM: 134636 MIM: 154950
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: CHURC1-FNTB PubMed Links

Gene Details

Gene: CHURC1-FNTB
Gene Name: CHURC1-FNTB readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001202558.1		Intron			NP_001189487.1
NM_001202559.1		Intron			NP_001189488.1

Gene: FNTB
Gene Name: farnesyltransferase, CAAX box, beta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002028.3		Intron			NP_002019.1

Gene: MAX
Gene Name: MYC associated factor X

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001271068.1		Intron			NP_001257997.1
NM_001271069.1		Intron			NP_001257998.1
NM_001320415.1		Intron			NP_001307344.1
NM_002382.4		Intron			NP_002373.3
NM_145112.2		Intron			NP_660087.1
NM_145113.2		Intron			NP_660088.1
NM_145114.2		Intron			NP_660089.1
NM_197957.3		Intron			NP_932061.1
XM_011536773.2		Intron			XP_011535075.1
XM_017021312.1		Intron			XP_016876801.1
XM_017021313.1		Intron			XP_016876802.1

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