Product Details

SNP ID

rs11553042

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:44715521 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCTGGGTTTCATCCATCCGACATT[A/G]AAGTTGACTTACTGAAGAATGGAGA

Phenotype

MIM: 109700 MIM: 614661

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

B2M PubMed Links

Gene Details

Gene

B2M

Gene Name

beta-2-microglobulin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004048.2	221	Missense Mutation	AAA,GAA	K56E	NP_004039.1
XM_005254549.3	221	Missense Mutation	AAA,GAA	K56E	XP_005254606.1

Gene

PATL2

Gene Name

PAT1 homolog 2

There are no transcripts associated with this gene.

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