Product Details

SNP ID

rs201450918

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:7883245 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTTTCTTCCCTCCTCGGAAAAGCA[A/C]TAACGTGGGGTAGCCTCGTACCTTA

Phenotype

MIM: 112266 MIM: 616412

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

BLOC1S5-TXNDC5 PubMed Links

Gene Details

Gene

BLOC1S5-TXNDC5

Gene Name

BLOC1S5-TXNDC5 readthrough (NMD candidate)

There are no transcripts associated with this gene.

Gene

BMP6

Gene Name

bone morphogenetic protein 6

There are no transcripts associated with this gene.

Gene

TXNDC5

Gene Name

thioredoxin domain containing 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145549.2	1236	Silent Mutation			NP_001139021.1
NM_030810.3	1236	Silent Mutation			NP_110437.2

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