Product Details

SNP ID

rs139999995

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:39909842 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCCCACCCTGCACTTACCTGCATG[C/G]TGCCGCTTCTTCCTGCCCACAGCAG

Phenotype

MIM: 606627 MIM: 603707

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

DAAM2 PubMed Links

Gene Details

Gene

DAAM2

Gene Name

dishevelled associated activator of morphogenesis 2

There are no transcripts associated with this gene.

Gene

MOCS1

Gene Name

molybdenum cofactor synthesis 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001075098.3	1140	Missense Mutation	CAC,CAG	H365Q	NP_001068566.1
NM_005943.5	1140	Missense Mutation	CAC,CAG	H365Q	NP_005934.2
XM_011514632.2	1140	Missense Mutation	CAC,CAG	H365Q	XP_011512934.1
XM_011514633.2	1140	Missense Mutation	CAC,CAG	H365Q	XP_011512935.1
XM_011514634.2	1140	Missense Mutation	CAC,CAG	H278Q	XP_011512936.1
XM_017010888.1	1140	Missense Mutation	CAC,CAG	H278Q	XP_016866377.1

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