Product Details

SNP ID

rs79530186

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:75343730 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTTTAGCAAAGATGGCTAAAGCAT[A/G]GGCAAACCAGTGCAAATTTGAACAT

Phenotype

MIM: 607724 MIM: 610395

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CAPS2 PubMed Links

Gene Details

Gene

CAPS2

Gene Name

calcyphosine 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286547.1	3097	Intron			NP_001273476.1
NM_001286548.1	3097	Intron			NP_001273477.1
NM_001286549.1	3097	Intron			NP_001273478.1
NM_032606.3	3097	Intron			NP_115995.2
XM_005269192.1	3097	Intron			XP_005269249.1
XM_005269194.3	3097	Intron			XP_005269251.1
XM_006719648.2	3097	Intron			XP_006719711.2
XM_006719649.2	3097	Intron			XP_006719712.2
XM_011538878.1	3097	Intron			XP_011537180.1
XM_011538886.2	3097	Intron			XP_011537188.1
XM_011538887.2	3097	Intron			XP_011537189.1
XM_011538888.1	3097	Intron			XP_011537190.1
XM_011538889.2	3097	Intron			XP_011537191.1
XM_011538890.1	3097	Intron			XP_011537192.1
XM_011538892.1	3097	Intron			XP_011537194.1
XM_017020034.1	3097	Intron			XP_016875523.1
XM_017020035.1	3097	Intron			XP_016875524.1
XM_017020036.1	3097	Intron			XP_016875525.1
XM_017020037.1	3097	Intron			XP_016875526.1
XM_017020038.1	3097	Intron			XP_016875527.1
XM_017020039.1	3097	Intron			XP_016875528.1
XM_017020040.1	3097	Intron			XP_016875529.1
XM_017020041.1	3097	Intron			XP_016875530.1
XM_017020042.1	3097	Intron			XP_016875531.1
XM_017020043.1	3097	Intron			XP_016875532.1
XM_017020044.1	3097	Intron			XP_016875533.1
XM_017020045.1	3097	Intron			XP_016875534.1
XM_017020046.1	3097	Intron			XP_016875535.1
XM_017020047.1	3097	Intron			XP_016875536.1

Gene

GLIPR1L1

Gene Name

GLI pathogenesis related 1 like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001304964.1	3097	Nonsense Mutation	TAG,TGG	*71W	NP_001291893.1
NM_152779.3	3097	Nonsense Mutation	TAG,TGG	*71W	NP_689992.1
XM_011538134.2	3097	Nonsense Mutation	TAG,TGG	*156W	XP_011536436.2
XM_017019134.1	3097	Intron			XP_016874623.1

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