Product Details

SNP ID

rs149040830

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:83018749 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGTGTAGCACACATTGGGCAGGAT[C/G]TCTATGGGTTCCTTGAACATGACCC

Phenotype

MIM: 608530

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

BTBD1 PubMed Links

Gene Details

Gene

BTBD1

Gene Name

BTB domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001011885.1	1451	UTR 3			NP_001011885.1
NM_025238.3	1451	Missense Mutation	GAC,GAG	D416E	NP_079514.1

Gene

C15orf40

Gene Name

chromosome 15 open reading frame 40

There are no transcripts associated with this gene.

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