Product Details

SNP ID
rs3744250
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:7856736 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
AAAGGTAAGCGCCATCGTGGTCAGA[A/G]ATACGGAGGCCCGGTCAGACTCTCC
Phenotype
MIM: 611577
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CYB5D1 PubMed Links

Gene Details

Gene
CYB5D1
Gene Name
cytochrome b5 domain containing 1
There are no transcripts associated with this gene.

Gene
KDM6B
Gene Name
lysine demethylase 6B
There are no transcripts associated with this gene.

Gene
NAA38
Gene Name
N(alpha)-acetyltransferase 38, NatC auxiliary subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
XM_011524037.2 607 Missense Mutation XP_011522339.1
XM_017025225.1 607 Missense Mutation XP_016880714.1
XM_017025226.1 607 Missense Mutation XP_016880715.1
Gene
TMEM88
Gene Name
transmembrane protein 88
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001319941.1 607 Intron NP_001306870.1
NM_203411.1 607 Intron NP_981956.1
XM_005256856.3 607 Intron XP_005256913.1

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