Product Details

SNP ID

rs147847410

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:119834988 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTAATGCACCTATGGTTTGCTTCT[C/G]TCCACACAAATCTCTGTAGGAACAA

Phenotype

MIM: 613203 MIM: 604912

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

DSCC1 PubMed Links

Gene Details

Gene

DSCC1

Gene Name

DNA replication and sister chromatid cohesion 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024094.2	1222	Missense Mutation	CAG,GAG	Q363E	NP_076999.2
XM_005251065.3	1222	Missense Mutation	CAG,GAG	Q318E	XP_005251122.1

Gene

TAF2

Gene Name

TATA-box binding protein associated factor 2

There are no transcripts associated with this gene.

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