Product Details

SNP ID

rs41303709

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:71303668 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAGTGATGCTACTCCATGTACCTA[A/C]CACCCAGGAGCACCCCGATTCCATG

Phenotype

MIM: 300332 MIM: 300084

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ITGB1BP2 PubMed Links

Gene Details

Gene

ITGB1BP2

Gene Name

integrin subunit beta 1 binding protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001303277.1	316	Nonsense Mutation	TAA,TAC	*47Y	NP_001290206.1
NM_012278.2	316	Nonsense Mutation	TAA,TAC	*170Y	NP_036410.1
XM_017029405.1	316	Nonsense Mutation	TAA,TAC	*69Y	XP_016884894.1

Gene

NONO

Gene Name

non-POU domain containing, octamer-binding

There are no transcripts associated with this gene.

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