Product Details

SNP ID

rs269939

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:54928470 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGAGGAAAGGCAGAGGGGAGTGAGC[A/G]GAAGAAATCCTTGTCCTCAGAGTTT

Phenotype

MIM: 604530 MIM: 609661

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NCR1 PubMed Links

Gene Details

Gene

NCR1

Gene Name

natural cytotoxicity triggering receptor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145457.2		Intron			NP_001138929.2
NM_001145458.2		Intron			NP_001138930.2
NM_001242356.2		Intron			NP_001229285.1
NM_001242357.2		Intron			NP_001229286.1
NM_004829.6		Intron			NP_004820.2
XM_011527528.2		Intron			XP_011525830.1
XM_011527529.2		Intron			XP_011525831.1
XM_011527530.2		Intron			XP_011525832.1

Gene

NLRP7

Gene Name

NLR family pyrin domain containing 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001127255.1		Intron			NP_001120727.1
NM_139176.3		Intron			NP_631915.2
NM_206828.3		Intron			NP_996611.2
XM_006723075.3		Intron			XP_006723138.1
XM_006723076.3		Intron			XP_006723139.1
XM_011526596.2		Intron			XP_011524898.1
XM_011526599.2		Intron			XP_011524901.1
XM_011526601.2		Intron			XP_011524903.1

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