Product Details

SNP ID

rs144012457

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:81934935 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCCCGCAGTCCTTACGTAGGCGGG[A/G]CCGCTGCCACTGAGCCCCGTGACGG

Phenotype

MIM: 602020 MIM: 179035

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MAFG PubMed Links

Gene Details

Gene

MAFG

Gene Name

MAF bZIP transcription factor G

There are no transcripts associated with this gene.

Gene

MAFG-AS1

Gene Name

MAFG antisense RNA 1 (head to head)

There are no transcripts associated with this gene.

Gene

MYADML2

Gene Name

myeloid associated differentiation marker like 2

There are no transcripts associated with this gene.

Gene

PYCR1

Gene Name

pyrroline-5-carboxylate reductase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282279.1	603	Silent Mutation	GGC,GGT	G177G	NP_001269208.1
NM_001282280.1	603	Silent Mutation	GGC,GGT	G177G	NP_001269209.1
NM_001282281.1	603	Silent Mutation	GGC,GGT	G204G	NP_001269210.1
NM_006907.3	603	Silent Mutation	GGC,GGT	G177G	NP_008838.2
NM_153824.2	603	Silent Mutation	GGC,GGT	G177G	NP_722546.1
XM_005256381.2	603	Silent Mutation	GGC,GGT	G177G	XP_005256438.1
XM_011523583.2	603	Silent Mutation	GGC,GGT	G177G	XP_011521885.1
XM_011523584.2	603	Silent Mutation	GGC,GGT	G177G	XP_011521886.1
XM_011523585.2	603	Silent Mutation	GGC,GGT	G204G	XP_011521887.1
XM_017024909.1	603	Silent Mutation	GGC,GGT	G177G	XP_016880398.1

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