Product Details

SNP ID

rs116121413

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:47274631 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGCGATACCCCTTGGAGGATCACA[A/C]TGAGTTTCCCCTGCCCCCAGATGTA

Phenotype

MIM: 603584 MIM: 602423

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

LOC101928943 PubMed Links

Gene Details

Gene

LOC101928943

Gene Name

uncharacterized LOC101928943

There are no transcripts associated with this gene.

Gene

MADD

Gene Name

MAP kinase activating death domain

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135943.1	346	Missense Mutation	AAT,ACT	N44T	NP_001129415.1
NM_001135944.1	346	Missense Mutation	AAT,ACT	N44T	NP_001129416.1
NM_003682.3	346	Missense Mutation	AAT,ACT	N44T	NP_003673.3
NM_130470.2	346	Missense Mutation	AAT,ACT	N44T	NP_569826.2
NM_130471.2	346	Missense Mutation	AAT,ACT	N44T	NP_569827.2
NM_130472.2	346	Missense Mutation	AAT,ACT	N44T	NP_569828.2
NM_130473.2	346	Missense Mutation	AAT,ACT	N44T	NP_569829.2
NM_130474.2	346	Missense Mutation	AAT,ACT	N44T	NP_569830.2
NM_130475.2	346	Missense Mutation	AAT,ACT	N44T	NP_569831.1
NM_130476.2	346	Missense Mutation	AAT,ACT	N44T	NP_569832.2
XM_005253189.2	346	Missense Mutation	AAT,ACT	N44T	XP_005253246.1
XM_005253196.2	346	Missense Mutation	AAT,ACT	N44T	XP_005253253.1
XM_005253199.2	346	Missense Mutation	AAT,ACT	N44T	XP_005253256.1
XM_005253200.2	346	Missense Mutation	AAT,ACT	N44T	XP_005253257.1
XM_005253201.2	346	Missense Mutation	AAT,ACT	N44T	XP_005253258.1
XM_005253203.2	346	Missense Mutation	AAT,ACT	N44T	XP_005253260.1
XM_005253204.2	346	Missense Mutation	AAT,ACT	N44T	XP_005253261.1
XM_005253205.1	346	Missense Mutation	AAT,ACT	N44T	XP_005253262.1
XM_017018478.1	346	Missense Mutation	AAT,ACT	N44T	XP_016873967.1
XM_017018479.1	346	Missense Mutation	AAT,ACT	N44T	XP_016873968.1
XM_017018480.1	346	Missense Mutation	AAT,ACT	N44T	XP_016873969.1
XM_017018481.1	346	Missense Mutation	AAT,ACT	N44T	XP_016873970.1
XM_017018482.1	346	Missense Mutation	AAT,ACT	N44T	XP_016873971.1
XM_017018483.1	346	Missense Mutation	AAT,ACT	N44T	XP_016873972.1
XM_017018484.1	346	Missense Mutation	AAT,ACT	N44T	XP_016873973.1
XM_017018485.1	346	Missense Mutation	AAT,ACT	N44T	XP_016873974.1
XM_017018486.1	346	Missense Mutation	AAT,ACT	N44T	XP_016873975.1
XM_017018487.1	346	Missense Mutation	AAT,ACT	N44T	XP_016873976.1
XM_017018488.1	346	Missense Mutation	AAT,ACT	N44T	XP_016873977.1
XM_017018489.1	346	Missense Mutation	AAT,ACT	N44T	XP_016873978.1
XM_017018490.1	346	Missense Mutation	AAT,ACT	N44T	XP_016873979.1
XM_017018491.1	346	Missense Mutation	AAT,ACT	N44T	XP_016873980.1
XM_017018492.1	346	Missense Mutation	AAT,ACT	N44T	XP_016873981.1
XM_017018493.1	346	Missense Mutation	AAT,ACT	N44T	XP_016873982.1
XM_017018494.1	346	Missense Mutation	AAT,ACT	N44T	XP_016873983.1
XM_017018495.1	346	Missense Mutation	AAT,ACT	N44T	XP_016873984.1
XM_017018496.1	346	Missense Mutation	AAT,ACT	N44T	XP_016873985.1
XM_017018497.1	346	Missense Mutation	AAT,ACT	N44T	XP_016873986.1
XM_017018498.1	346	Missense Mutation	AAT,ACT	N44T	XP_016873987.1
XM_017018499.1	346	Missense Mutation	AAT,ACT	N44T	XP_016873988.1
XM_017018500.1	346	Missense Mutation	AAT,ACT	N44T	XP_016873989.1
XM_017018501.1	346	Missense Mutation	AAT,ACT	N44T	XP_016873990.1
XM_017018502.1	346	Missense Mutation	AAT,ACT	N44T	XP_016873991.1
XM_017018503.1	346	Missense Mutation	AAT,ACT	N44T	XP_016873992.1
XM_017018504.1	346	Missense Mutation	AAT,ACT	N44T	XP_016873993.1
XM_017018505.1	346	Missense Mutation	AAT,ACT	N44T	XP_016873994.1
XM_017018506.1	346	Missense Mutation	AAT,ACT	N44T	XP_016873995.1
XM_017018507.1	346	Missense Mutation	AAT,ACT	N44T	XP_016873996.1
XM_017018508.1	346	Missense Mutation	AAT,ACT	N44T	XP_016873997.1
XM_017018509.1	346	Missense Mutation	AAT,ACT	N44T	XP_016873998.1
XM_017018510.1	346	Missense Mutation	AAT,ACT	N44T	XP_016873999.1

Gene

NR1H3

Gene Name

nuclear receptor subfamily 1 group H member 3

There are no transcripts associated with this gene.

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