Product Details

SNP ID

rs78945358

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:32841717 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGAGCCGAGTCCCATGTTCATCCA[C/T]GTAGTAGAGTCCAGGACCCTATAAG

Phenotype

MIM: 177046 MIM: 170260 MIM: 170261

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PSMB8 PubMed Links

Gene Details

Gene

PSMB8

Gene Name

proteasome subunit beta 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004159.4	1066	Missense Mutation	ATG,GTG	M182V	NP_004150.1
NM_148919.3	1066	Missense Mutation	ATG,GTG	M186V	NP_683720.2

Gene

PSMB8-AS1

Gene Name

PSMB8 antisense RNA 1 (head to head)

There are no transcripts associated with this gene.

Gene

TAP1

Gene Name

transporter 1, ATP binding cassette subfamily B member

There are no transcripts associated with this gene.

Gene

TAP2

Gene Name

transporter 2, ATP binding cassette subfamily B member

There are no transcripts associated with this gene.

View Full Product Details