Product Details

SNP ID
rs144229829
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:30986067 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGCCAGGGCCTGTGAGGGTGACTG[C/T]CATCCAGGGGGACGTGACCCAGGCC
Phenotype
MIM: 607764 MIM: 611052 MIM: 601485
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
HSD3B7 PubMed Links

Gene Details

Gene
HSD3B7
Gene Name
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142777.1 291 Missense Mutation GCC,GTC A62V NP_001136249.1
NM_001142778.1 291 Missense Mutation GCC,GTC A62V NP_001136250.1
NM_025193.3 291 Missense Mutation GCC,GTC A62V NP_079469.2
XM_005255601.3 291 Missense Mutation GCC,GTC A62V XP_005255658.2
XM_011545960.2 291 Missense Mutation GCC,GTC A62V XP_011544262.1
XM_011545961.1 291 Missense Mutation GCC,GTC A62V XP_011544263.1
XM_011545962.2 291 Missense Mutation GCC,GTC A62V XP_011544264.1
XM_017023732.1 291 Missense Mutation GCC,GTC A62V XP_016879221.1
Gene
SETD1A
Gene Name
SET domain containing 1A
There are no transcripts associated with this gene.

Gene
STX1B
Gene Name
syntaxin 1B
There are no transcripts associated with this gene.

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