Product Details

SNP ID

rs149525472

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:72199674 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCACGGCACAGGAACAACACGCAT[A/G]GTGTTGGTGAAGCCGGAGCCAGGGC

Phenotype

MIM: 179050

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GRAMD2 PubMed Links

Gene Details

Gene

GRAMD2

Gene Name

GRAM domain containing 2

There are no transcripts associated with this gene.

Gene

PKM

Gene Name

pyruvate kinase, muscle

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001206796.2	2094	Silent Mutation	ACC,ACT	T598T	NP_001193725.1
NM_001206797.2	2094	Silent Mutation	ACC,ACT	T450T	NP_001193726.1
NM_001206798.2	2094	Silent Mutation	ACC,ACT	T509T	NP_001193727.1
NM_001206799.1	2094	Intron			NP_001193728.1
NM_001316318.1	2094	Silent Mutation	ACC,ACT	T559T	NP_001303247.1
NM_002654.5	2094	Silent Mutation	ACC,ACT	T524T	NP_002645.3
NM_182470.3	2094	Silent Mutation	ACC,ACT	T524T	NP_872270.1
NM_182471.3	2094	Silent Mutation	ACC,ACT	T524T	NP_872271.1
XM_005254443.1	2094	Silent Mutation	ACC,ACT	T584T	XP_005254500.1
XM_005254445.4	2094	Intron			XP_005254502.1
XM_006720570.1	2094	Silent Mutation	ACC,ACT	T598T	XP_006720633.1
XM_011521670.2	2094	Silent Mutation	ACC,ACT	T559T	XP_011519972.1
XM_017022313.1	2094	Intron			XP_016877802.1

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