Product Details

SNP ID

rs145873506

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:51168275 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAACACCTGAAGCAGCACTACATT[A/G]ACCTGAAAGACCGACCATTCTTCCC

Phenotype

MIM: 156490 MIM: 156491

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MBTD1 PubMed Links

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	390	Missense Mutation	AAC,GAC	N169D	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	390	Missense Mutation	AAC,GAC	N54D	NP_001018147.1
NM_001018138.1	390	Intron			NP_001018148.1
NM_001018139.2	390	Intron			NP_001018149.1
NM_001198682.1	390	Missense Mutation	AAC,GAC	N54D	NP_001185611.1
NM_002512.3	390	Missense Mutation	AAC,GAC	N54D	NP_002503.1

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