Product Details

SNP ID

rs149604986

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:96762362 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACGACCCAAGCTGGAGCCCCACCCC[A/G]TGATACCTCGGTAAGCAGCACATCT

Phenotype

MIM: 114090 MIM: 606832

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CAST PubMed Links

Gene Details

Gene

CAST

Gene Name

calpastatin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001190442.1	1759	Missense Mutation	CAT,CGT	H545R	NP_001177371.1
XM_006714696.3	1759	Missense Mutation	CAT,CGT	H641R	XP_006714759.1
XM_006714697.3	1759	Missense Mutation	CAT,CGT	H641R	XP_006714760.1
XM_006714698.3	1759	Missense Mutation	CAT,CGT	H628R	XP_006714761.1
XM_006714699.3	1759	Missense Mutation	CAT,CGT	H626R	XP_006714762.1
XM_006714700.3	1759	Missense Mutation	CAT,CGT	H622R	XP_006714763.1
XM_006714701.3	1759	Missense Mutation	CAT,CGT	H619R	XP_006714764.1
XM_006714702.3	1759	Missense Mutation	CAT,CGT	H607R	XP_006714765.1
XM_006714703.3	1759	Missense Mutation	CAT,CGT	H606R	XP_006714766.1
XM_006714704.3	1759	Missense Mutation	CAT,CGT	H604R	XP_006714767.1
XM_006714705.3	1759	Missense Mutation	CAT,CGT	H600R	XP_006714768.1
XM_006714706.3	1759	Missense Mutation	CAT,CGT	H585R	XP_006714769.1
XM_006714707.3	1759	Missense Mutation	CAT,CGT	H558R	XP_006714770.1
XM_006714708.3	1759	Missense Mutation	CAT,CGT	H545R	XP_006714771.1
XM_006714709.3	1759	Missense Mutation	CAT,CGT	H539R	XP_006714772.1
XM_006714710.3	1759	Missense Mutation	CAT,CGT	H523R	XP_006714773.1
XM_006714711.3	1759	Missense Mutation	CAT,CGT	H517R	XP_006714774.1
XM_006714712.3	1759	Missense Mutation	CAT,CGT	H504R	XP_006714775.1
XM_006714713.3	1759	Missense Mutation	CAT,CGT	H281R	XP_006714776.1
XM_006714714.3	1759	Missense Mutation	CAT,CGT	H281R	XP_006714777.1
XM_006714715.3	1759	Missense Mutation	CAT,CGT	H273R	XP_006714778.1
XM_011543654.2	1759	Missense Mutation	CAT,CGT	H614R	XP_011541956.1
XM_011543655.2	1759	Missense Mutation	CAT,CGT	H613R	XP_011541957.1
XM_011543656.2	1759	Missense Mutation	CAT,CGT	H592R	XP_011541958.1
XM_011543657.2	1759	Missense Mutation	CAT,CGT	H577R	XP_011541959.1
XM_011543658.2	1759	Missense Mutation	CAT,CGT	H509R	XP_011541960.1
XM_017009911.1	1759	Missense Mutation	CAT,CGT	H628R	XP_016865400.1
XM_017009912.1	1759	Missense Mutation	CAT,CGT	H628R	XP_016865401.1
XM_017009913.1	1759	Missense Mutation	CAT,CGT	H622R	XP_016865402.1
XM_017009914.1	1759	Missense Mutation	CAT,CGT	H622R	XP_016865403.1
XM_017009915.1	1759	Missense Mutation	CAT,CGT	H619R	XP_016865404.1
XM_017009916.1	1759	Missense Mutation	CAT,CGT	H619R	XP_016865405.1
XM_017009917.1	1759	Missense Mutation	CAT,CGT	H613R	XP_016865406.1
XM_017009918.1	1759	Missense Mutation	CAT,CGT	H609R	XP_016865407.1
XM_017009919.1	1759	Missense Mutation	CAT,CGT	H600R	XP_016865408.1
XM_017009920.1	1759	Missense Mutation	CAT,CGT	H591R	XP_016865409.1
XM_017009921.1	1759	Missense Mutation	CAT,CGT	H591R	XP_016865410.1
XM_017009922.1	1759	Missense Mutation	CAT,CGT	H587R	XP_016865411.1
XM_017009923.1	1759	Missense Mutation	CAT,CGT	H587R	XP_016865412.1
XM_017009924.1	1759	Missense Mutation	CAT,CGT	H581R	XP_016865413.1
XM_017009925.1	1759	Missense Mutation	CAT,CGT	H572R	XP_016865414.1
XM_017009926.1	1759	Missense Mutation	CAT,CGT	H572R	XP_016865415.1
XM_017009927.1	1759	Missense Mutation	CAT,CGT	H558R	XP_016865416.1
XM_017009928.1	1759	Missense Mutation	CAT,CGT	H545R	XP_016865417.1
XM_017009929.1	1759	Missense Mutation	CAT,CGT	H536R	XP_016865418.1
XM_017009930.1	1759	Missense Mutation	CAT,CGT	H526R	XP_016865419.1
XM_017009931.1	1759	Missense Mutation	CAT,CGT	H523R	XP_016865420.1
XM_017009932.1	1759	Missense Mutation	CAT,CGT	H504R	XP_016865421.1

Gene

ERAP1

Gene Name

endoplasmic reticulum aminopeptidase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001040458.1	1759	Intron			NP_001035548.1
NM_001198541.1	1759	Intron			NP_001185470.1
NM_016442.3	1759	UTR 3			NP_057526.3
XM_005272015.4	1759	Intron			XP_005272072.1
XM_005272016.4	1759	Intron			XP_005272073.1
XM_011543480.2	1759	Intron			XP_011541782.1
XM_011543481.2	1759	Intron			XP_011541783.1
XM_011543484.2	1759	Intron			XP_011541786.1
XM_011543485.2	1759	Intron			XP_011541787.1
XM_011543486.2	1759	Intron			XP_011541788.1
XM_017009580.1	1759	Intron			XP_016865069.1
XM_017009581.1	1759	Intron			XP_016865070.1
XM_017009582.1	1759	UTR 3			XP_016865071.1
XM_017009583.1	1759	Intron			XP_016865072.1

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