Product Details

SNP ID

rs149579121

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:48900822 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGCCTCCCTCTGGGCCCCGAGGAA[C/T]CCTCCTTCTGTTGCCGCTGCTGCTG

Phenotype

MIM: 601323 MIM: 602309

Polymorphism

C/T, 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	360	Missense Mutation	ACC,ATC	T9I	NP_006175.2
XM_017026845.1	360	Missense Mutation	ACC,ATC	T9I	XP_016882334.1

Gene

TULP2

Gene Name

tubby like protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003323.2	360	Intron			NP_003314.2
XM_006723347.3	360	Intron			XP_006723410.1
XM_006723348.3	360	Intron			XP_006723411.1
XM_011527252.2	360	Intron			XP_011525554.1
XM_011527253.2	360	Intron			XP_011525555.1
XM_011527254.2	360	Intron			XP_011525556.1
XM_011527255.2	360	Intron			XP_011525557.1
XM_011527256.2	360	Intron			XP_011525558.1

View Full Product Details