Product Details

SNP ID

rs728117

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:16501200 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CAAAGAGAGCTGACAGAATCCTCTC[C/T]GGGGGTGCACTCGAACTCGCGTCCC

Phenotype

MIM: 611414

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C19orf44 PubMed Links

Gene Details

Gene

C19orf44

Gene Name

chromosome 19 open reading frame 44

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001288834.1	564	Silent Mutation	TCC,TCT	S136S	NP_001275763.1
NM_032207.3	564	Silent Mutation	TCC,TCT	S136S	NP_115583.1
XM_006722920.3	564	Silent Mutation	TCC,TCT	S136S	XP_006722983.1
XM_011528354.2	564	Silent Mutation	TCC,TCT	S136S	XP_011526656.1
XM_017027350.1	564	Silent Mutation	TCC,TCT	S136S	XP_016882839.1

Gene

CALR3

Gene Name

calreticulin 3

There are no transcripts associated with this gene.

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