Product Details

SNP ID

rs144048982

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:16897796 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGACGTTGTAGAAGCGAGTGGCCT[C/G]GAAGGCTACGGGACGAGGGTGGCGG

Phenotype

MIM: 608841 MIM: 602779

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CPAMD8 PubMed Links

Gene Details

Gene

CPAMD8

Gene Name

C3 and PZP like, alpha-2-macroglobulin domain containing 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015692.2	5136	Missense Mutation	CAG,GAG	Q1701E	NP_056507.2
XM_011527917.1	5136	Missense Mutation	CAG,GAG	Q1689E	XP_011526219.1
XM_011527918.1	5136	Missense Mutation	CAG,GAG	Q1701E	XP_011526220.1
XM_011527919.1	5136	Missense Mutation	CAG,GAG	Q1701E	XP_011526221.1
XM_011527920.2	5136	Missense Mutation	CAG,GAG	Q1701E	XP_011526222.1
XM_011527921.2	5136	Missense Mutation	CAG,GAG	Q1701E	XP_011526223.1
XM_011527922.1	5136	Missense Mutation	CAG,GAG	Q1701E	XP_011526224.1
XM_011527923.1	5136	Missense Mutation	CAG,GAG	Q1701E	XP_011526225.1
XM_011527924.2	5136	Missense Mutation	CAG,GAG	Q1701E	XP_011526226.1
XM_011527925.1	5136	Missense Mutation	CAG,GAG	Q958E	XP_011526227.1
XM_017026594.1	5136	Missense Mutation	CAG,GAG	Q1701E	XP_016882083.1

Gene

F2RL3

Gene Name

F2R like thrombin/trypsin receptor 3

There are no transcripts associated with this gene.

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