Product Details

SNP ID

rs138402442

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:1986557 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGTGCCATTGTTGTTCCCGGCCGC[A/G]TAGCAAAAGGTGAAGCAGGTCTTGG

Phenotype

MIM: 608531 MIM: 602214

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

BTBD2 PubMed Links

Gene Details

Gene

BTBD2

Gene Name

BTB domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017797.3	875	Silent Mutation	TAC,TAT	Y503Y	NP_060267.2
XM_005259593.1	875	Silent Mutation	TAC,TAT	Y355Y	XP_005259650.1
XM_011528127.1	875	Silent Mutation	TAC,TAT	Y182Y	XP_011526429.1

Gene

CSNK1G2

Gene Name

casein kinase 1 gamma 2

There are no transcripts associated with this gene.

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