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SNP ID

rs142869246

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:1979522 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTGCGCGGCTGCTCTCGTAGGCGC[A/G]GGAAGCACAGAACTGGGGACCTGGT

Phenotype

MIM: 600924 MIM: 611256 MIM: 605915

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GFER PubMed Links

Gene Details

Gene

GFER

Gene Name

growth factor, augmenter of liver regeneration

There are no transcripts associated with this gene.

Gene

NOXO1

Gene Name

NADPH oxidase organizer 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001267721.1	1103	Missense Mutation	CGC,TGC	R245C	NP_001254650.1
NM_144603.3	1103	Missense Mutation	CGC,TGC	R240C	NP_653204.1
NM_172167.2	1103	Missense Mutation	CGC,TGC	R241C	NP_751907.1
NM_172168.2	1103	Missense Mutation	CGC,TGC	R246C	NP_751908.1
XM_005255099.4	1103	Missense Mutation	CGC,TGC	R246C	XP_005255156.1
XM_017022927.1	1103	Missense Mutation	CGC,TGC	R246C	XP_016878416.1
XM_017022928.1	1103	Missense Mutation	CGC,TGC	R246C	XP_016878417.1

Gene

TBL3

Gene Name

transducin beta like 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006453.2	1103	Intron			NP_006444.2

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