Product Details

SNP ID

rs141760771

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:57091730 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGGGGGGCTGGCAGCAGGTGGGA[C/G]TGGGGGTGGTCCAGACCGACTGGAG

Phenotype

MIM: 602381 MIM: 616496 MIM: 601512

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

NAB2 PubMed Links

Gene Details

Gene

NAB2

Gene Name

NGFI-A binding protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005967.3	1067	Missense Mutation	ACT,AGT	T230S	NP_005958.1
XM_005268894.2	1067	Missense Mutation	ACT,AGT	T230S	XP_005268951.1

Gene

NEMP1

Gene Name

nuclear envelope integral membrane protein 1

There are no transcripts associated with this gene.

Gene

STAT6

Gene Name

signal transducer and activator of transcription 6

There are no transcripts associated with this gene.

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