Product Details

SNP ID

rs143049283

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:99439100 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGCCGCCATGCAGGAAATCATCGC[C/T]AGCGTGGACCACATCAAGTTTGACT

Phenotype

MIM: 603052 MIM: 614774

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ATP5J2-PTCD1 PubMed Links

Gene Details

Gene

ATP5J2-PTCD1

Gene Name

ATP5J2-PTCD1 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001198879.1	165	Intron			NP_001185808.1

Gene

CPSF4

Gene Name

cleavage and polyadenylation specific factor 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001081559.2	165	Silent Mutation	GCC,GCT	A6A	NP_001075028.1
NM_001318160.1	165	Silent Mutation	GCC,GCT	A6A	NP_001305089.1
NM_001318161.1	165	Silent Mutation	GCC,GCT	A6A	NP_001305090.1
NM_001318162.1	165	Intron			NP_001305091.1
NM_006693.3	165	Silent Mutation	GCC,GCT	A6A	NP_006684.1
XM_011515755.2	165	Silent Mutation	GCC,GCT	A6A	XP_011514057.1
XM_011515756.2	165	Silent Mutation	GCC,GCT	A6A	XP_011514058.1
XM_011515757.2	165	Silent Mutation	GCC,GCT	A6A	XP_011514059.1
XM_017011700.1	165	Silent Mutation	GCC,GCT	A6A	XP_016867189.1
XM_017011701.1	165	Silent Mutation	GCC,GCT	A6A	XP_016867190.1
XM_017011702.1	165	Intron			XP_016867191.1
XM_017011703.1	165	Intron			XP_016867192.1

Gene

PTCD1

Gene Name

pentatricopeptide repeat domain 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015545.3	165	Intron			NP_056360.2

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