Product Details

SNP ID

rs143717241

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:48294773 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCACTGAAGTCAGGGAAGAAGGCT[G/T]CAATCTCTCTGCTGGCTGAAACCAC

Phenotype

MIM: 608294

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

FCF1P2 PubMed Links

Gene Details

Gene

FCF1P2

Gene Name

FCF1 pseudogene 2

There are no transcripts associated with this gene.

Gene

NME6

Gene Name

NME/NM23 nucleoside diphosphate kinase 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001308426.1	765	Missense Mutation	GAA,GCA	E142A	NP_001295355.1
NM_001308427.1	765	Missense Mutation	GAA,GCA	E142A	NP_001295356.1
NM_001308428.1	765	Missense Mutation	GAA,GCA	E142A	NP_001295357.1
NM_001308430.1	765	Missense Mutation	AAG,CAG	K137Q	NP_001295359.1
NM_001308431.1	765	Missense Mutation	AAG,CAG	K129Q	NP_001295360.1
NM_001308433.1	765	Missense Mutation	AAG,CAG	K129Q	NP_001295362.1
NM_001308434.1	765	Missense Mutation	GAA,GCA	E97A	NP_001295363.1
NM_001308435.1	765	Missense Mutation	GAA,GCA	E75A	NP_001295364.1
NM_005793.4	765	Missense Mutation	GAA,GCA	E150A	NP_005784.1
XM_017005511.1	765	Intron			XP_016861000.1
XM_017005512.1	765	Intron			XP_016861001.1
XM_017005513.1	765	Missense Mutation	GAA,GCA	E146A	XP_016861002.1
XM_017005514.1	765	Missense Mutation	GAA,GCA	E142A	XP_016861003.1
XM_017005515.1	765	Missense Mutation	AAG,CAG	K129Q	XP_016861004.1
XM_017005516.1	765	Intron			XP_016861005.1
XM_017005517.1	765	Missense Mutation	GAA,GCA	E70A	XP_016861006.1
XM_017005518.1	765	Missense Mutation	GAA,GCA	E67A	XP_016861007.1

View Full Product Details