Product Details

SNP ID

rs1804017

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:51171531 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATTCAGTAAAAAGTGCTGAAAAAG[A/T]AATCAGCCTATGGTTTAAGCCTGAA

Phenotype

MIM: 156490 MIM: 156491

Polymorphism

A/T, Transversion Substitution

Allele Nomenclature

Literature Links

MBTD1 PubMed Links

Additional Information

For this assay, SNP(s) [rs201931229] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

MBTD1

Gene Name

mbt domain containing 1

There are no transcripts associated with this gene.

Gene

NME1

Gene Name

NME/NM23 nucleoside diphosphate kinase 1

There are no transcripts associated with this gene.

Gene

NME1-NME2

Gene Name

NME1-NME2 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001018136.2	503	Missense Mutation	GAA,GTA	E244V	NP_001018146.1

Gene

NME2

Gene Name

NME/NM23 nucleoside diphosphate kinase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001018137.2	503	Missense Mutation	GAA,GTA	E129V	NP_001018147.1
NM_001018138.1	503	Intron			NP_001018148.1
NM_001018139.2	503	Intron			NP_001018149.1
NM_001198682.1	503	UTR 3			NP_001185611.1
NM_002512.3	503	Missense Mutation	GAA,GTA	E129V	NP_002503.1

View Full Product Details