Product Details

SNP ID

rs150464212

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:30985761 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGAATGCTGCTGCAGCGGGAGCCC[C/G]GGCTCGGGGAGCTGCGGGTCTTTGA

Phenotype

MIM: 607764 MIM: 611052 MIM: 601485

Polymorphism

C/G, Transversion 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	209	Silent Mutation	CGG,GGG	R35G	NP_001136249.1
NM_001142778.1	209	Silent Mutation	CGG,GGG	R35G	NP_001136250.1
NM_025193.3	209	Silent Mutation	CGG,GGG	R35G	NP_079469.2
XM_005255601.3	209	Silent Mutation	CGG,GGG	R35G	XP_005255658.2
XM_011545960.2	209	Silent Mutation	CGG,GGG	R35G	XP_011544262.1
XM_011545961.1	209	Silent Mutation	CGG,GGG	R35G	XP_011544263.1
XM_011545962.2	209	Silent Mutation	CGG,GGG	R35G	XP_011544264.1
XM_017023732.1	209	Silent Mutation	CGG,GGG	R35G	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.

View Full Product Details