Product Details

SNP ID

rs3209722

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:47274582 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCAGGCACCCGAGCAGTGATAGC[A/G]TGGCCCAGACTCCTGAATTGCTACG

Phenotype

MIM: 603584 MIM: 602423

Polymorphism

A/G, Transition 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	297	Missense Mutation	ATG,GTG	M28V	NP_001129415.1
NM_001135944.1	297	Missense Mutation	ATG,GTG	M28V	NP_001129416.1
NM_003682.3	297	Missense Mutation	ATG,GTG	M28V	NP_003673.3
NM_130470.2	297	Missense Mutation	ATG,GTG	M28V	NP_569826.2
NM_130471.2	297	Missense Mutation	ATG,GTG	M28V	NP_569827.2
NM_130472.2	297	Missense Mutation	ATG,GTG	M28V	NP_569828.2
NM_130473.2	297	Missense Mutation	ATG,GTG	M28V	NP_569829.2
NM_130474.2	297	Missense Mutation	ATG,GTG	M28V	NP_569830.2
NM_130475.2	297	Missense Mutation	ATG,GTG	M28V	NP_569831.1
NM_130476.2	297	Missense Mutation	ATG,GTG	M28V	NP_569832.2
XM_005253189.2	297	Missense Mutation	ATG,GTG	M28V	XP_005253246.1
XM_005253196.2	297	Missense Mutation	ATG,GTG	M28V	XP_005253253.1
XM_005253199.2	297	Missense Mutation	ATG,GTG	M28V	XP_005253256.1
XM_005253200.2	297	Missense Mutation	ATG,GTG	M28V	XP_005253257.1
XM_005253201.2	297	Missense Mutation	ATG,GTG	M28V	XP_005253258.1
XM_005253203.2	297	Missense Mutation	ATG,GTG	M28V	XP_005253260.1
XM_005253204.2	297	Missense Mutation	ATG,GTG	M28V	XP_005253261.1
XM_005253205.1	297	Missense Mutation	ATG,GTG	M28V	XP_005253262.1
XM_017018478.1	297	Missense Mutation	ATG,GTG	M28V	XP_016873967.1
XM_017018479.1	297	Missense Mutation	ATG,GTG	M28V	XP_016873968.1
XM_017018480.1	297	Missense Mutation	ATG,GTG	M28V	XP_016873969.1
XM_017018481.1	297	Missense Mutation	ATG,GTG	M28V	XP_016873970.1
XM_017018482.1	297	Missense Mutation	ATG,GTG	M28V	XP_016873971.1
XM_017018483.1	297	Missense Mutation	ATG,GTG	M28V	XP_016873972.1
XM_017018484.1	297	Missense Mutation	ATG,GTG	M28V	XP_016873973.1
XM_017018485.1	297	Missense Mutation	ATG,GTG	M28V	XP_016873974.1
XM_017018486.1	297	Missense Mutation	ATG,GTG	M28V	XP_016873975.1
XM_017018487.1	297	Missense Mutation	ATG,GTG	M28V	XP_016873976.1
XM_017018488.1	297	Missense Mutation	ATG,GTG	M28V	XP_016873977.1
XM_017018489.1	297	Missense Mutation	ATG,GTG	M28V	XP_016873978.1
XM_017018490.1	297	Missense Mutation	ATG,GTG	M28V	XP_016873979.1
XM_017018491.1	297	Missense Mutation	ATG,GTG	M28V	XP_016873980.1
XM_017018492.1	297	Missense Mutation	ATG,GTG	M28V	XP_016873981.1
XM_017018493.1	297	Missense Mutation	ATG,GTG	M28V	XP_016873982.1
XM_017018494.1	297	Missense Mutation	ATG,GTG	M28V	XP_016873983.1
XM_017018495.1	297	Missense Mutation	ATG,GTG	M28V	XP_016873984.1
XM_017018496.1	297	Missense Mutation	ATG,GTG	M28V	XP_016873985.1
XM_017018497.1	297	Missense Mutation	ATG,GTG	M28V	XP_016873986.1
XM_017018498.1	297	Missense Mutation	ATG,GTG	M28V	XP_016873987.1
XM_017018499.1	297	Missense Mutation	ATG,GTG	M28V	XP_016873988.1
XM_017018500.1	297	Missense Mutation	ATG,GTG	M28V	XP_016873989.1
XM_017018501.1	297	Missense Mutation	ATG,GTG	M28V	XP_016873990.1
XM_017018502.1	297	Missense Mutation	ATG,GTG	M28V	XP_016873991.1
XM_017018503.1	297	Missense Mutation	ATG,GTG	M28V	XP_016873992.1
XM_017018504.1	297	Missense Mutation	ATG,GTG	M28V	XP_016873993.1
XM_017018505.1	297	Missense Mutation	ATG,GTG	M28V	XP_016873994.1
XM_017018506.1	297	Missense Mutation	ATG,GTG	M28V	XP_016873995.1
XM_017018507.1	297	Missense Mutation	ATG,GTG	M28V	XP_016873996.1
XM_017018508.1	297	Missense Mutation	ATG,GTG	M28V	XP_016873997.1
XM_017018509.1	297	Missense Mutation	ATG,GTG	M28V	XP_016873998.1
XM_017018510.1	297	Missense Mutation	ATG,GTG	M28V	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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