Product Details

SNP ID

rs116778343

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:48900279 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGACCTCTTTGGGGCGGGGCCTCT[G/T]TGGATAAGTGGGCGTGGTCTAGGGG

Phenotype

MIM: 601323 MIM: 602309

Polymorphism

G/T, Transversion 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	230	UTR 5			NP_006175.2
XM_017026845.1	230	Intron			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	230	Intron			NP_003314.2
XM_006723347.3	230	Intron			XP_006723410.1
XM_006723348.3	230	Intron			XP_006723411.1
XM_011527252.2	230	Intron			XP_011525554.1
XM_011527253.2	230	Intron			XP_011525555.1
XM_011527254.2	230	Intron			XP_011525556.1
XM_011527255.2	230	Intron			XP_011525557.1
XM_011527256.2	230	Intron			XP_011525558.1

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