Product Details

SNP ID

rs139871208

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:32847554 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGGAGTCCAGAGATGAAACTATGG[A/G]CCCCAGACTTTACTGCAGCAGCTGT

Phenotype

MIM: 177046 MIM: 177045 MIM: 170260 MIM: 170261

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PSMB8 PubMed Links

Gene Details

Gene

PSMB8

Gene Name

proteasome subunit beta 8

There are no transcripts associated with this gene.

Gene

PSMB8-AS1

Gene Name

PSMB8 antisense RNA 1 (head to head)

There are no transcripts associated with this gene.

Gene

PSMB9

Gene Name

proteasome subunit beta 9

There are no transcripts associated with this gene.

Gene

TAP1

Gene Name

transporter 1, ATP binding cassette subfamily B member

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000593.5	2197	Missense Mutation	GCC,GTC	A681V	NP_000584.2
NM_001292022.1	2197	Missense Mutation	GCC,GTC	A420V	NP_001278951.1

Gene

TAP2

Gene Name

transporter 2, ATP binding cassette subfamily B member

There are no transcripts associated with this gene.

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