Product Details

SNP ID

rs201914561

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:38281516 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTAGTTACACTGTTCTCGTGGGCT[C/T]GCTTGATTCGCAATCTGCATTCTTC

Phenotype

MIM: 615003 MIM: 607083

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DDHD2 PubMed Links

Gene Details

Gene

DDHD2

Gene Name

DDHD domain containing 2

There are no transcripts associated with this gene.

Gene

WHSC1L1

Gene Name

Wolf-Hirschhorn syndrome candidate 1-like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017778.2	4087	Intron			NP_060248.2
NM_023034.1	4087	Missense Mutation	CAA,CGA	Q1190R	NP_075447.1

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