Product Details

SNP ID

rs180932774

Assay Type

Functionally Tested

NCBI dbSNP Submissions

5

Location

Chr.1:37866505 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATCCAAGCAGTCCCTGATATGTTC[A/C]AATTCTGACCTCAGGCCTGGTTGCT

Phenotype

MIM: 147264 MIM: 600172

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

INPP5B PubMed Links

Additional Information

For this assay, SNP(s) [rs568256858] 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

INPP5B

Gene Name

inositol polyphosphate-5-phosphatase B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001297434.1	2174	Missense Mutation	TTG,TTT	L616F	NP_001284363.1
NM_005540.2	2174	Missense Mutation	TTG,TTT	L780F	NP_005531.2
XM_006710621.3	2174	Intron			XP_006710684.2
XM_011541392.2	2174	Missense Mutation	TTG,TTT	L587F	XP_011539694.1
XM_011541393.2	2174	Missense Mutation	TTG,TTT	L587F	XP_011539695.1
XM_017001206.1	2174	Intron			XP_016856695.1
XM_017001207.1	2174	Missense Mutation	TTG,TTT	L661F	XP_016856696.1
XM_017001208.1	2174	Intron			XP_016856697.1
XM_017001209.1	2174	Missense Mutation	TTG,TTT	L560F	XP_016856698.1

Gene

MTF1

Gene Name

metal regulatory transcription factor 1

There are no transcripts associated with this gene.

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