Product Details

SNP ID

rs3762425

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:37864413 on Build GRCh38

Set Membership

JSNP

Context Sequence [VIC/FAM]

GACATTTTTGTGGAATATGGGGAGA[C/G]TAGAAATGACCTGAAAGAGGAAGAA

Phenotype

MIM: 147264 MIM: 600172

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

INPP5B PubMed Links

Gene Details

Gene

INPP5B

Gene Name

inositol polyphosphate-5-phosphatase B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001297434.1	2359	Missense Mutation	ACT,AGT	T678S	NP_001284363.1
NM_005540.2	2359	Missense Mutation	ACT,AGT	T842S	NP_005531.2
XM_006710621.3	2359	Intron			XP_006710684.2
XM_011541392.2	2359	Missense Mutation	ACT,AGT	T649S	XP_011539694.1
XM_011541393.2	2359	Missense Mutation	ACT,AGT	T649S	XP_011539695.1
XM_017001206.1	2359	Intron			XP_016856695.1
XM_017001207.1	2359	Missense Mutation	ACT,AGT	T723S	XP_016856696.1
XM_017001208.1	2359	Intron			XP_016856697.1
XM_017001209.1	2359	Missense Mutation	ACT,AGT	T622S	XP_016856698.1

Gene

MTF1

Gene Name

metal regulatory transcription factor 1

There are no transcripts associated with this gene.

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