Product Details

SNP ID

rs146288310

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:38905095 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCTTCTCGGCCGGCACTGAGTACA[C/T]GGACCTGCAGAATGACCTAGGCCAG

Phenotype

MIM: 604495 MIM: 604480

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CCER2 PubMed Links

Gene Details

Gene

CCER2

Gene Name

coiled-coil glutamate rich protein 2

There are no transcripts associated with this gene.

Gene

NFKBIB

Gene Name

NFKB inhibitor beta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001243116.1	299	Missense Mutation	ACG,ATG	T1M	NP_001230045.1
NM_002503.4	299	Missense Mutation	ACG,ATG	T87M	NP_002494.2
XM_006723226.2	299	Missense Mutation	ACG,ATG	T55M	XP_006723289.2
XM_006723227.3	299	Missense Mutation	ACG,ATG	T82M	XP_006723290.3

Gene

SIRT2

Gene Name

sirtuin 2

There are no transcripts associated with this gene.

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