Product Details

SNP ID

rs190940468

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:48904438 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCGAGAGAAGCTGCAGGCTGCCA[A/G]TGCGGAGGACATCAAGGTGCGGCTG

Phenotype

MIM: 601323 MIM: 602309

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NUCB1 PubMed Links

Gene Details

Gene

NUCB1

Gene Name

nucleobindin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006184.5	561	Missense Mutation	AAT,AGT	N76S	NP_006175.2
XM_017026845.1	561	Missense Mutation	AAT,AGT	N76S	XP_016882334.1

Gene

NUCB1-AS1

Gene Name

NUCB1 antisense RNA 1

There are no transcripts associated with this gene.

Gene

TULP2

Gene Name

tubby like protein 2

There are no transcripts associated with this gene.

View Full Product Details