Product Details

SNP ID

rs13049404

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:46311485 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CTTAATACTTCCTGACCGTTGAGTA[A/G]GGAAGGCCTGGGGAGGAGGAATCTG

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C21orf58 PubMed Links

Gene Details

Gene

C21orf58

Gene Name

chromosome 21 open reading frame 58

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286462.1	2103	Missense Mutation	CCT,CTT	P125L	NP_001273391.1
NM_001286463.1	2103	Missense Mutation	CCT,CTT	P125L	NP_001273392.1
NM_001286476.1	2103	Missense Mutation	CCT,CTT	P125L	NP_001273405.1
NM_001286477.1	2103	Missense Mutation	CCT,CTT	P125L	NP_001273406.1
NM_058180.4	2103	Missense Mutation	CCT,CTT	P231L	NP_478060.2
XM_005261148.4	2103	Missense Mutation	CCT,CTT	P231L	XP_005261205.1
XM_006724018.3	2103	Missense Mutation	CCT,CTT	P231L	XP_006724081.1
XM_011529619.2	2103	Missense Mutation	CCT,CTT	P231L	XP_011527921.1
XM_011529620.2	2103	Missense Mutation	CCT,CTT	P231L	XP_011527922.1
XM_011529621.2	2103	Missense Mutation	CCT,CTT	P230L	XP_011527923.1
XM_011529623.2	2103	Missense Mutation	CCT,CTT	P204L	XP_011527925.1
XM_011529624.2	2103	Missense Mutation	CCT,CTT	P166L	XP_011527926.1
XM_011529625.2	2103	Missense Mutation	CCT,CTT	P148L	XP_011527927.1
XM_011529626.2	2103	Missense Mutation	CCT,CTT	P125L	XP_011527928.1
XM_011529627.2	2103	Missense Mutation	CCT,CTT	P125L	XP_011527929.1
XM_011529628.1	2103	Intron			XP_011527930.1
XM_017028388.1	2103	Missense Mutation	CCT,CTT	P148L	XP_016883877.1
XM_017028389.1	2103	Missense Mutation	CCT,CTT	P125L	XP_016883878.1
XM_017028390.1	2103	Missense Mutation	CCT,CTT	P125L	XP_016883879.1
XM_017028391.1	2103	Missense Mutation	CCT,CTT	P125L	XP_016883880.1
XM_017028392.1	2103	Missense Mutation	CCT,CTT	P125L	XP_016883881.1
XM_017028393.1	2103	Missense Mutation	CCT,CTT	P125L	XP_016883882.1

Gene

YBEY

Gene Name

ybeY metallopeptidase (putative)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001006114.2	2103	Intron			NP_001006114.1
NM_001314022.1	2103	Intron			NP_001300951.1
NM_001314023.1	2103	Intron			NP_001300952.1
NM_001314024.1	2103	Intron			NP_001300953.1
NM_001314025.1	2103	Intron			NP_001300954.1
NM_001314026.1	2103	Intron			NP_001300955.1
NM_058181.2	2103	Intron			NP_478061.1
XM_005261156.3	2103	Intron			XP_005261213.2
XM_011529629.2	2103	Intron			XP_011527931.1
XM_011529630.2	2103	Intron			XP_011527932.1
XM_011529631.2	2103	Intron			XP_011527933.1
XM_011529633.2	2103	Intron			XP_011527935.1
XM_011529634.2	2103	Intron			XP_011527936.2
XM_011529635.2	2103	Intron			XP_011527937.1
XM_017028394.1	2103	Intron			XP_016883883.1
XM_017028395.1	2103	Intron			XP_016883884.1
XM_017028396.1	2103	Intron			XP_016883885.1

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