Product Details

SNP ID

rs2494514

Assay Type

Functionally tested

NCBI dbSNP Submissions

44

Location

Chr.1:159826911 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TCTCCAGAGAAAGATGGTCATGAGG[A/C]CCCTGTGGAGTCTGCTTCTCTGGGA

Phenotype

MIM: 606620

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

C1orf204 PubMed Links

Gene Details

Gene

C1orf204

Gene Name

chromosome 1 open reading frame 204

There are no transcripts associated with this gene.

Gene

SLAMF8

Gene Name

SLAM family member 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020125.2	262	Missense Mutation	ACC,CCC	T5P	NP_064510.1
XM_005245345.2	262	Missense Mutation	ACC,CCC	T5P	XP_005245402.1
XM_011509775.1	262	Missense Mutation	ACC,CCC	T5P	XP_011508077.1
XM_011509776.2	262	Missense Mutation	ACC,CCC	T5P	XP_011508078.1
XM_011509777.2	262	Missense Mutation	ACC,CCC	T5P	XP_011508079.1
XM_011509778.2	262	Missense Mutation	ACC,CCC	T5P	XP_011508080.1
XM_011509779.2	262	Missense Mutation	ACC,CCC	T5P	XP_011508081.1
XM_011509780.2	262	Missense Mutation	ACC,CCC	T5P	XP_011508082.2
XM_017001844.1	262	Missense Mutation	ACC,CCC	T5P	XP_016857333.1
XM_017001845.1	262	Missense Mutation	ACC,CCC	T5P	XP_016857334.1
XM_017001846.1	262	Missense Mutation	ACC,CCC	T5P	XP_016857335.1

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