Product Details

SNP ID

rs200287215

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:52064837 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTTATTTTTCAGGGTACAGCTCGC[A/G]GAAAGAAGAAGGTGGTACATAGAAC

Phenotype

MIM: 609448

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

BTF3L4 PubMed Links

Gene Details

Gene

BTF3L4

Gene Name

basic transcription factor 3 like 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001136497.2	275	UTR 5			NP_001129969.1
NM_001243767.1	275	Missense Mutation	AGA,GGA	R23G	NP_001230696.1
NM_152265.4	275	Missense Mutation	AGA,GGA	R23G	NP_689478.1

Gene

TXNDC12

Gene Name

thioredoxin domain containing 12

There are no transcripts associated with this gene.

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