Product Details

SNP ID

hCV90567424

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:7881667 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTTGTGCTTCTCTAGGAGGTTGGG[G/T]TTTTTTAAAAAAAGAATTATCTGTG

Phenotype

MIM: 112266 MIM: 616412

Polymorphism

G/T, 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

There are no transcripts associated with this gene.

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