Product Details

SNP ID

rs104894518

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:30986612 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTTCTCCTCCCACCAGGGGCAAC[A/G]AAGACACCCCATACGAAGCAGTGCA

Phenotype

MIM: 607764 MIM: 611052 MIM: 601485

Polymorphism

A/G, 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	545	Missense Mutation	AAA,GAA	K147E	NP_001136249.1
NM_001142778.1	545	Missense Mutation	AAA,GAA	K147E	NP_001136250.1
NM_025193.3	545	Missense Mutation	AAA,GAA	K147E	NP_079469.2
XM_005255601.3	545	Missense Mutation	AAA,GAA	K147E	XP_005255658.2
XM_011545960.2	545	Missense Mutation	AAA,GAA	K147E	XP_011544262.1
XM_011545961.1	545	Missense Mutation	AAA,GAA	K147E	XP_011544263.1
XM_011545962.2	545	Missense Mutation	AAA,GAA	K147E	XP_011544264.1
XM_017023732.1	545	Missense Mutation	AAA,GAA	K147E	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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