Product Details

SNP ID

rs201423966

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:150704126 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACTATCAAGTTTATACCTGAGAAT[A/G]AGAAATAGAAAGATCTGGACTTTCT

Phenotype

MIM: 612208 MIM: 609824

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GOLPH3L PubMed Links

Gene Details

Gene

GOLPH3L

Gene Name

golgi phosphoprotein 3 like

There are no transcripts associated with this gene.

Gene

HORMAD1

Gene Name

HORMA domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199829.1	1037	Missense Mutation	CAT,TAT	H307Y	NP_001186758.1
NM_032132.4	1037	Missense Mutation	CAT,TAT	H314Y	NP_115508.2
XM_006711570.2	1037	Missense Mutation	CAT,TAT	H243Y	XP_006711633.1
XM_006711571.2	1037	Missense Mutation	CAT,TAT	H236Y	XP_006711634.1
XM_011510053.2	1037	Missense Mutation	CAT,TAT	H314Y	XP_011508355.1
XM_011510054.2	1037	Missense Mutation	CAT,TAT	H314Y	XP_011508356.1
XM_011510055.2	1037	Missense Mutation	CAT,TAT	H233Y	XP_011508357.1
XM_011510056.2	1037	Missense Mutation	CAT,TAT	H215Y	XP_011508358.1

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