Product Details

SNP ID

rs200486795

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:9069777 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGTAAATCAAGACATGGTTGCTGC[G/T]GACTTCTGTCCGGCTCACATGGTTA

Phenotype

MIM: 103950 MIM: 604874

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

A2M PubMed Links

Gene Details

Gene

A2M

Gene Name

alpha-2-macroglobulin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000014.4	4344	Missense Mutation	AGC,CGC	S1411R	NP_000005.2
XM_006719056.2	4344	Missense Mutation	AGC,CGC	S1411R	XP_006719119.1

Gene

A2M-AS1

Gene Name

A2M antisense RNA 1 (head to head)

There are no transcripts associated with this gene.

Gene

KLRG1

Gene Name

killer cell lectin like receptor G1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005810.3	4344	Intron			NP_005801.3
XM_017018682.1	4344	Intron			XP_016874171.1
XM_017018683.1	4344	Intron			XP_016874172.1
XM_017018684.1	4344	Intron			XP_016874173.1
XM_017018685.1	4344	Intron			XP_016874174.1

Gene

LINC00612

Gene Name

long intergenic non-protein coding RNA 612

There are no transcripts associated with this gene.

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