Product Details

SNP ID

rs200302219

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:155023380 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGACTCACAGCTCCAGGTCCAGGT[C/G]CCCCTGGTAGGAGAGGGGAGATGCA

Phenotype

MIM: 607646

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

DCST2 PubMed Links

Gene Details

Gene

DCST2

Gene Name

DC-STAMP domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_144622.2	1491	Missense Mutation	CAC,GAC	H650D	NP_653223.2
XM_011509188.2	1491	Missense Mutation	CAC,GAC	H430D	XP_011507490.1
XM_011509189.2	1491	Missense Mutation	CAC,GAC	H318D	XP_011507491.1

Gene

ZBTB7B

Gene Name

zinc finger and BTB domain containing 7B

There are no transcripts associated with this gene.

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