Product Details

SNP ID

rs117632493

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:151490199 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGAATGATTTCCAAAAAGAGAAAT[A/C]AAAGAAAATGAAACATCTAACTTCA

Phenotype

MIM: 161650 MIM: 608952

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

NEB PubMed Links

Gene Details

Gene

NEB

Gene Name

nebulin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001164507.1		Intron			NP_001157979.1
NM_001164508.1		Intron			NP_001157980.1
NM_001271208.1		Intron			NP_001258137.1
NM_004543.4		Intron			NP_004534.2
XM_005246590.2		Intron			XP_005246647.1
XM_005246591.2		Intron			XP_005246648.1
XM_005246592.2		Intron			XP_005246649.1
XM_005246593.2		Intron			XP_005246650.1
XM_005246594.2		Intron			XP_005246651.1
XM_005246596.2		Intron			XP_005246653.1
XM_005246597.2		Intron			XP_005246654.1
XM_005246598.2		Intron			XP_005246655.1
XM_005246599.2		Intron			XP_005246656.1
XM_005246600.2		Intron			XP_005246657.1
XM_005246601.2		Intron			XP_005246658.1
XM_005246602.2		Intron			XP_005246659.1
XM_005246603.2		Intron			XP_005246660.1
XM_005246604.2		Intron			XP_005246661.1
XM_005246606.2		Intron			XP_005246663.1
XM_005246608.2		Intron			XP_005246665.1
XM_005246610.2		Intron			XP_005246667.1
XM_005246611.2		Intron			XP_005246668.1
XM_005246612.2		Intron			XP_005246669.1
XM_005246613.2		Intron			XP_005246670.1
XM_005246615.2		Intron			XP_005246672.1
XM_005246616.1		Intron			XP_005246673.1
XM_005246617.2		Intron			XP_005246674.1
XM_006712541.2		Intron			XP_006712604.1
XM_006712542.2		Intron			XP_006712605.1
XM_011511225.2		Intron			XP_011509527.1
XM_011511226.2		Intron			XP_011509528.1
XM_011511227.2		Intron			XP_011509529.1
XM_017004177.1		Intron			XP_016859666.1
XM_017004178.1		Intron			XP_016859667.1
XM_017004179.1		Intron			XP_016859668.1
XM_017004180.1		Intron			XP_016859669.1
XM_017004181.1		Intron			XP_016859670.1
XM_017004182.1		Intron			XP_016859671.1
XM_017004183.1		Intron			XP_016859672.1
XM_017004184.1		Intron			XP_016859673.1
XM_017004185.1		Intron			XP_016859674.1

Gene

RIF1

Gene Name

replication timing regulatory factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001177663.1		Intron			NP_001171134.1
NM_001177664.1		Intron			NP_001171135.1
NM_001177665.1		Intron			NP_001171136.1
NM_018151.4		Intron			NP_060621.3
XM_005246665.3		Intron			XP_005246722.1
XM_011511395.2		Intron			XP_011509697.1
XM_017004422.1		Intron			XP_016859911.1
XM_017004423.1		Intron			XP_016859912.1
XM_017004424.1		Intron			XP_016859913.1
XM_017004425.1		Intron			XP_016859914.1

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