Product Details

SNP ID

rs200884173

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:13913270 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGCGCCAGACAAGCTGGAGACAGC[A/G]CCAAGATGCGGCGCTACGATCGGGG

Phenotype

MIM: 610055

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C19orf57 PubMed Links

Gene Details

Gene

C19orf57

Gene Name

chromosome 19 open reading frame 57

There are no transcripts associated with this gene.

Gene

CC2D1A

Gene Name

coiled-coil and C2 domain containing 1A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017721.4	780	Missense Mutation	ACC,GCC	T161A	NP_060191.3
XM_005259972.2	780	Missense Mutation	ACC,GCC	T161A	XP_005260029.1
XM_005259973.2	780	Missense Mutation	ACC,GCC	T161A	XP_005260030.1
XM_005259974.2	780	Missense Mutation	ACC,GCC	T161A	XP_005260031.1
XM_005259975.2	780	Missense Mutation	ACC,GCC	T161A	XP_005260032.1

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