Product Details

SNP ID

rs1135216

Assay Type

DME

NCBI dbSNP Submissions

NA

Location

Chr.6:32847198 on Build GRCh38

Set Membership

HapMap DME Validated Inventoried

Context Sequence [VIC/FAM]

CCCTGACAGCTGGCTCCCAGCCTCG[C/T]CTACCTCTGCAGAGCAAAGGGCCAA

Phenotype

MIM: 177046 MIM: 177045 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

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	2245	Missense Mutation	GAC,GGC	D697G	NP_000584.2
NM_001292022.1	2245	Missense Mutation	GAC,GGC	D436G	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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