Product Details

SNP ID

rs17011638

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:75663414 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TTTGATTAAATTATCTTGCCTCTGT[C/T]TTATTAGACAAATATTTTATCAGAA

Phenotype

MIM: 189901 MIM: 611832

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GCFC2 PubMed Links

Gene Details

Gene

GCFC2

Gene Name

GC-rich sequence DNA-binding factor 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001201334.1	3504	UTR 3			NP_001188263.1
NM_001201335.1	3504	Intron			NP_001188264.1
NM_003203.4	3504	UTR 3			NP_003194.3
XM_005264520.3	3504	UTR 3			XP_005264577.1
XM_011533074.2	3504	UTR 3			XP_011531376.1
XM_011533075.1	3504	Intron			XP_011531377.1
XM_017004787.1	3504	Intron			XP_016860276.1
XM_017004788.1	3504	Intron			XP_016860277.1

Gene

MRPL19

Gene Name

mitochondrial ribosomal protein L19

There are no transcripts associated with this gene.

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