Product Details

SNP ID

rs140517797

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:38900179 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCCGGGGCTGTCGTGGGCTCCCCT[C/T]GTCTTCGGCTACGTCACTGAGGATG

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	242	Intron			NP_001230045.1
NM_002503.4	242	Silent Mutation	CTC,CTT	L49L	NP_002494.2
XM_006723226.2	242	Missense Mutation	TCG,TTG	S36L	XP_006723289.2
XM_006723227.3	242	Intron			XP_006723290.3

Gene

SIRT2

Gene Name

sirtuin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001193286.1	242	Intron			NP_001180215.1
NM_012237.3	242	Intron			NP_036369.2
NM_030593.2	242	Intron			NP_085096.1
XM_006723111.1	242	Intron			XP_006723174.1
XM_011526654.1	242	Intron			XP_011524956.1
XM_011526655.1	242	Intron			XP_011524957.1
XM_017026500.1	242	Intron			XP_016881989.1

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